Tietz’s Applied Laboratory Medicine Second Edition Tietz’s Applied Laboratory Medicine Second Edition Mitchell G Scott Washington University School of Medicine Ann M Gronowski Washington University School of Medicine Charles S Eby Washington University School of Medicine Copyright # 2007 by John Wiley & Sons, Inc All rights reserved Published by John Wiley & Sons, Inc., Hoboken, New Jersey Published simultaneously in Canada No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, scanning, or otherwise, except as permitted under Section 107 or 108 of the 1976 United States Copyright Act, without either the prior written permission of the Publisher, or authorization through payment of the appropriate per-copy fee to the Copyright Clearance Center, Inc., 222 Rosewood Drive, Danvers, MA 01923, (978) 750-8400, fax (978) 750-4470, or on the web at www.copyright.com Requests to 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general information on our other products and services or for technical support, please contact our Customer Care Department within the United States at (800) 762-2974, outside the United States at (317) 572-3993 or fax (317) 572-4002 Wiley also publishes its books in a variety of electronic formats Some content that appears in print may not be available in electronic formats For more information about Wiley products, visit our web site at www.wiley.com Library of Congress Cataloging-in-Publication Data is available ISBN-13 978-0-471-71457-6 ISBN-10 0-471-71457-6 Printed in the United States of America 10 Contents Preface Contributors Part One xi xiii Case Oliguria with Metabolic Acidosis 41 after Renal Transplantation C Darrell Jennings Cardiac Disease Case A 45-Year-Old Man with Substantial Chest Pain Fred S Apple Case A 48-Year-Old Cocaine User 11 with Chest Pain Fred S Apple and Ramona Evans Part Two Pulmonary Diseases Case Shortness of Breath with Productive Cough Nausherwan K Burki Case Genotype – Phenotype Correlations in Cystic Fibrosis Latisha Love-Gregory, Barbara Zehnbauer, and Dennis Dietzen Case A Woman with Uremia, Pulmonary Infiltration, and Hemoptysis C Darrell Jennings Case Young Man with Edema and Decreased Urine Output H William Schnaper 55 Case A New Doctor for a Man with Diabetes and Hypertension Michael E Hull 65 19 Case 10 A Pain in the Back Kevin J Martin and Esther A Gonza´lez 25 Case 11 Refractory Hyponatremia with Lung Cancer Manish J Gandhi Part Four Part Three 49 75 79 Liver Diseases Renal Disease Case Man with Hypertension and Fever C Darrell Jennings 33 Case 12 Adolescent Female with Tremor, Depression, and Hepatitis Steven I Shedlofsky 91 v vi Contents Case 13 Adult Male with New-Onset Ascites Steven I Shedlofsky 99 Case 14 An Unexpected Finding : Nathan C Walk 105 Case 15 I Did It Just Once—A 37-Year-Old Man with Hepatitis C Alvaro Koch and Luis R Pen˜a 111 Case 16 Obese Woman with Persistently Abnormal Liver Enzymes 121 Iliana Bouneva Part Five Thyroid Diseases Case 17 The Irritable Wife William E Winter 131 Case 18 The Fatigued Attorney Kenneth B Ain 139 Case 19 The Reluctant Chef Kenneth B Ain 143 Part Six Case 23 The Hypertensive Accountant 175 Michael Stowasser and Richard D Gordon Case 24 Don’t “Take Two Aspirin and 183 Call Me in the Morning” Jacqueline E Payton Case 25 Unpleasant Spells Les G K Q Burke and Ravinder J Singh Part Seven 189 Diabetes Case 26 Recent Weight Loss and Polyuria in a 52-Year-Old Man Anders H Berg and David B Sacks Case 27 An Unconscious Diabetic Male Anders H Berg and David B Sacks Case 28 A Diabetic Woman’s “Episode” Anders H Berg and David B Sacks 199 205 211 Adrenocortical Diseases Case 20 Child with Rapid Growth and Precocious Sexual Maturation 149 Phyllis W Speiser Case 21 Weight Gain, Infertility, and Hypertension William E Winter Case 22 The Tired Teenager William E Winter 155 167 Part Eight Calcium and Parathyroid Hormone (PTH) Case 29 Bad to the Bone Chelsea A Sheppard and Corinne R Fantz Case 30 A Middle-Aged Woman with Colle’s Fracture Catherine A Hammett-Stabler 219 225 Contents Case 31 A 10-Year-Old Boy with 233 Pain-Induced Seizures Lorin M Henrich, Alan D Rogol, and David E Bruns Case 40 The Asymptomatic Iron Man Elise Krejci Part Eleven Part Nine Diseases 293 Infectious Diseases Miscellaneous Endocrine Case 41 Tired, Hot, and Lumpy J Stacey Klutts Case 32 Laboratory Tests Ignored Oren Zinder Case 33 Hot Flashes and Abdominal Pain Jennifer Snyder Part Ten vii 243 Case 35 Acute Neonatal Ammonia Intoxication Dennis Dietzen Case 42 A Rash on the Soles of the Feet Robyn M Atkinson 305 Case 43 When Life Gives You Lemons Robert S Liao 311 249 Genetically Inherited Disorders Case 34 Feed a Cold Dennis Dietzen 301 Case 44 The Wheezing Woodsman Paula Revell 315 Case 45 Not Just Heartburn Ariel Goldschmidt 319 Case 46 The Dangers of Yardwork Nathan A Ledeboer 329 257 263 Case 36 Not Just a Picky Eater Douglas F Stickle and Richard E Lutz 269 Case 37 The “Fussy” Neonate Patricia M Jones and Dinesh Rakheja 275 Case 38 The “Sleepy” Neonate Dinesh Rakheja and Patricia M Jones 281 Part Twelve Nonhematologic Malignancies Case 47 An Important Finding on Routine Screening Joan K Riley Case 39 A Happy but Developmentally 287 Delayed 5-Year-Old Boy Alison E Presley and David E Bruns 337 Case 48 Increasing Abdominal Girth Nicholas P Taylor and Randall K Gibb 343 Case 49 To Screen or Not to Screen? Da-elene van der Merwe and Eleftherios P Diamandis 349 viii Contents Case 50 A Male with Confusing hCG Results Kingshuk Das Case 51 Size Greater than Dates Randall K Gibb and Nicholas P Taylor Part Thirteen 355 Case 52 A Man with Anemia and 371 Lymphocytosis Sylva Bem, Robert E Hutchison, and Naif Z Abraham, Jr Case 54 A Middle-Aged Man with Chronic Foot Ulcer Brian Watson 379 387 Case 55 A Man with Progressive Effort Intolerance and Splenomegaly 393 Mrinal M Patnaik and Ayalew Tefferi Case 56 A Man with Splenic Vein Thrombosis and Polycythemia Karen Austin Part Fourteen Disorders 401 Benign Hematologic Case 57 A Child with Pneumonia John A Koepke Case 58 A Man with a Tender Toe and Anemia John Koepke 425 363 Hematologic Malignancies Case 53 A Teenager with Pneumonia, Leukopenia, and Ecchymoses Anna Hallsdordottir Case 59 A Woman with Fatigue and Pallor Naif Z Abraham, Jr and Robert E Hutchison 411 419 Case 60 Pulseless Leg Days after a Myocardial Infarction Majed Refaai 435 Case 61 Young Girl with a Bloody Knee Effusion Danielle Stueber 443 Case 62 A Young Man with Chest Pain Following a Knee Injury Ganesh C Kudva Case 63 A Young Woman with Postpartum Cerebral Venous Thrombosis and Abnormal Coagulation Tests Hans-Joachim Reimers 453 459 Case 64 A Baby with Petechiae and Bruises Lori Luchtman-Jones 465 Case 65 Evaluation of a Reference Range Outlier Charles Eby 475 Case 66 A Woman with Abdominal Pain and Thrombocytopenia Ji Lu 485 Case 67 Sudden Jaundice and Painful Fingers Arnel Urbiztondo 491 Case 68 The Good in “Bad” Fish Tacos Kimberley G Crone 497 Case 69 The Jaundiced Mother Nathan Walk 503 Contents 513 Case 77 A 43-Year-Old Male with 561 Chronic Pain Run-Zhang Shi, Susan B Gock, Jeffrey M Jentzen, and Steven H Wong 523 Case 78 Metabolic Acidosis of Unknown Origin Among Burn Patients 567 Deborah Chute and David Bruns Part Fifteen Porphyrias Case 70 Young Woman with Recurrent Abdominal Pain Steven I Shedlofsky Case 71 A 9-Year-Old Boy with Skin Lesions and Headaches David Bruns and Audrey K Bennett Part Eighteen Part Sixteen Case 73 Personalized Medicine for Pain Management Paul J Jannetto and Nancy C Bratanow Case 74 A Man with Colitis and Pancytopenia Alison Woodworth Case 75 A 46-Year-Old Female with a Painful, Swollen Right Calf Syamal Bhattacharya, Bradley D Freeman, and Barbara A Zehnbauer Part Seventeen Lipid Disorders Case 79 The Family Reunion Party Veronica Luzzi Pharmacogenomics Case 72 Personalized Medicine for a Renal Transplant Patient Paul J Jannetto ix 533 539 543 551 Toxicology Case 76 A Case of Mixed Club 557 Drugs Abuse Susan B Gock, Run-Zhang Shi, Jeffery M Jentzen, and Steven H Wong Case 80 A 5-Year-Old Boy with Yellow-Orange Tonsils: Hypoalphalipoproteinemia Raffick A R Bowen and Alan T Remaley Case 81 Worsening Diarrhea in a 5-Year-Old Girl Masako Udewa and Alan T Remaley 575 581 585 Case 82 A 4-Year-Old Girl with Yellow 589 Xanthomas and Arthritis Robert D Shamburek and Alan T Remaley Part Nineteen Autoimmune Diseases Case 83 Woman with Morning Stiffness 595 and Tender, Swollen Joints Liron Caplan and Sterling G West Case 84 Woman with a Rash and Lower Extremity Pain Liron Caplan and Sterling G West 601 Index Abdominal pain, acute intermittent porphyria, 513 – 522 See also Acute intermittent porphyria Abetalipoproteinemia, 585– 588 case presentation, 585– 586 defined, 586– 587 differential diagnosis, 587 treatment, 587 Acidosis, chronic renal failure, 69 Acute coronary syndrome, acute myocardial infarction, See also Coronary heart disease (CHD) Acute intermittent porphyria, 513– 522 case presentation, 513– 516 definitions, 516– 520 diagnosis, 520–521 Acute myocardial infarction, –15 anatomy, – case presentation, – 4, 11– 12 defined, 4, 12 diagnostic criteria, –6 differential diagnosis, 12– 13 pathogenesis, – 7, 13– 14 precipitating factors, presenting symptoms, – prognosis, – treatment, 14 Acute promyelocytic leukemia (APL) with disseminated intravascular coagulation (DIC), 379– 385 acute leukemia forms, 381 case presentation, 379– 381 diagnosis, 382 disseminated intravascular coagulation complications, 383– 385 pathology, 381– 382 treatment, 382– 383 Acute renal failure, 31– 39 See also Chronic renal failure case presentation, 31– 36 differential diagnosis, 37– 39 treatment, 39 Addison disease, 167 – 173 case presentation, 167 – 169 defined, 170 diagnosis, 172 differential diagnosis, 170 – 172 treatment, 172 Adrenocortical disease, 147 – 195 Addison disease, 167 – 173 case presentation, 167 – 169 defined, 170 diagnosis, 172 differential diagnosis, 170 – 172 treatment, 172 congenital adrenal hyperplasia (CAH), 149 – 154 case presentation, 149 – 150 clinical features, 151 – 152 commentary, 154 defined, 150 – 151 diagnosis, 152 –154 treatment, 154 Cushing syndrome, 155 – 165 case presentation, 155 – 159 defined, 159 – 161 diagnosis, 162 –163 diagnostic testing, 163 – 164 differential diagnosis, 161 – 162 treatment, 165 multiple endocrine neoplasia (MEN) syndrome, 183 – 188 case presentation, 183 – 184 defined, 184 – 185 diagnosis, 185 differential diagnosis, 185 pheochromocytoma, 189 –195 case presentation, 189 – 191 defined, 191 – 192 differential diagnosis, 192 – 195 primary hyperaldosteronism (Conn’s syndrome), 175 – 182 case presentation, 175 – 177 defined, 177 – 178 Tietz’s Applied Laboratory Medicine, Second Edition Edited by Mitchell G Scott, Ann M Gronowski, and Charles S Eby Copyright # 2007 John Wiley & Sons, Inc 665 666 Index Adrenocortical disease (Continued ) primary hyperaldosteronism (Continued) diagnosis confirmation and subtype differentiation, 180– 181 differential diagnosis and screening, 178– 180 treatment, 181 Adrenocortical dysplasia, Cushing syndrome, 161 Adrenocorticotrophic hormone (ACTH): Addison disease, 170, 171, 172 congenital adrenal hyperplasia (CAH), 150, 152, 154 Cushing syndrome, 157, 158, 160, 163, 164 Allergic bronchopulmonary aspergillosis (ABPA), 315– 318 case presentation, 315– 316 defined, 316– 317 differential diagnosis, 317 treatment, 317– 318 Allograft rejection, renal transplant cyclosporin toxicity, 44– 45 Analytical error, 615– 639 calcium values, 635– 639 case presentation, 635– 636 defined, 636 gadolinium, 637– 639 hypocalcemia differential diagnosis, 637 heterophile antibodies: HAA antibodies, 617–622 case presentation, 617– 618 interference mechanism, 619– 620 prevalence, detection, and prevention, 620– 621 problem definition, 618 prolactinomas, 623– 627 case presentation, 623– 624 defined, 624 differential diagnosis, 624– 625 “hook effect,” 625– 626 treatment, 627 urinary tract and prostate, 629– 634 case presentation, 629– 630 endogenous interfering antibodies, 630–633 anti-animal immunoglobulin antibodies, 632– 633 autoantibodies, 631– 632 immunoassays, 630– 631 follow-up, 630 interference detection and minimization, 633– 634 Anemia, chronic renal failure, 69, 419– 423 See also Celiac disease (CD); Chronic lymphocytic leukemia (CLL) with autoimmune hemolytic anemia (AHA); Pernicious anemia (PA) Anemia with chronic disease, 419 – 423 case presentation, 419 – 420 differential diagnosis, 420 – 421 treatment, 421 – 422 Angelman syndrome (AS), 287 –291 case presentation, 287 – 288 defined, 288 diagnosis, 289 –291 pathogenesis, 288 – 289 prognosis, 291 Anti-animal immunoglobulin antibodies: heterophile antibodies, 617 – 622 urinary tract and prostate, 632 –633 Antiduretic hormone (ADH) See Syndrome of inappropriate secretion of antiduretic hormone (SIADH) Antioxidants, nonalcoholic fatty liver disease (NAFLD), 127 – 128 Antiphospholipid syndrome (venous thromboembolism): clinical presentation, 463 – 464 defined, 461 diagnosis, 461 –462 pathophysiology, 462 –463 thrombosis and, 462 treatment, 464 Arginine vasopressin See Syndrome of inappropriate secretion of antiduretic hormone (SIADH) Arthritis, sitosterolemia, 589 –592 See also Rheumatoid arthritis Ascites, 99 –102 case presentation, 99 – 101 evaluation and management, 101 – 102 Aspergillus, allergic bronchopulmonary aspergillosis (ABPA), 315 – 318 Atherosclerosis, acute coronary syndrome, – ATP7B gene, Wilson’s disease, 94 Autoimmune disease, 593 – 613 celiac disease (CD), 609 – 613 case presentation, 609 –610 defined, 610 – 611 differential diagnosis, 611 extraintestinal manifestations, 611 pathogenesis, 612 serological markers, 611 – 612 treatment, 612 rheumatoid arthritis, 595 – 600 case presentation, 595 –596 clinical features, 595 diagnosis, 595 – 599 pathophysiology, 595 treatment, 599 – 600 Index systemic lupus erythematosus (SLE), 601–607 case presentation, 601– 603 clinical features, 604 diagnosis, 604– 606 pathophysiology, 603–604 treatment, 606 Autoimmune hemolytic anemia (AHA) See Chronic lymphocytic leukemia (CLL) with autoimmune hemolytic anemia (AHA) Azathioprine See Thiopurine Azotemia, chronic renal failure, 68 Back pain, renal osteodystrophy, 75–78 Bilateral micronodular hyperplasia, Cushing syndrome, 161 Bilirubin metabolism, Gilbert’s syndrome, 107– 109 Bone alkaline phosphatase isoenzyme, bone markers, 230 Borrelia burgdorferi, Lyme disease, 311– 314 Breast cancer, 337– 341 case presentation, 337 defined, 337– 338 differential diagnosis, 338– 339 treatment, 339– 340 Breath testing, Helicobacter pylori infection, 323 Calcineurin inhibitor effects and toxicity, renal transplant cyclosporin toxicity, 43– 44 Calcium value error: case presentation, 635– 636 defined, 636 gadolinium, 637– 639 hypocalcemia differential diagnosis, 637 Cancer See Breast cancer; Hematologic disorders (malignant); Nonhematologic malignancies; Prostate cancer Carcinoid syndrome, 249– 253 case presentation, 249– 250 defined, 250– 251 diagnosis, 251–252 treatment and prognosis, 252– 253 Cardiac disease See Acute myocardial infarction Catechol-O-methyl transferase (COMT), pheochromocytoma, 191 Celiac disease (CD), 609–613 case presentation, 609– 610 defined, 610– 611 differential diagnosis, 611 extraintestinal manifestations, 611 pathogenesis, 612 serological markers, 611– 612 treatment, 612 667 Cerebral venous thrombosis, venous thromboembolism (acquired), 459 – 464 See also Venous thromboembolism (acquired) Chronic bronchitis, chronic obstructive pulmonary disease (COPD), 21, 22 Chronic hyponatremia, syndrome of inappropriate secretion of antiduretic hormone (SIADH), 79 –87 See also Syndrome of inappropriate secretion of antiduretic hormone (SIADH) Chronic lymphocytic leukemia (CLL) with autoimmune hemolytic anemia (AHA), 371 – 377 case presentation, 371 – 372 diagnosis, 372 – 374 differential diagnosis, 374 – 376 prognosis, 374 treatment, 377 Chronic myelogenous leukemia (CML), 393 – 399 case presentation, 393 confirmation tests, 395 – 396 cytogenics, 396 – 397 defined, 396 differential diagnosis, 394 – 395 genetic diagnosis, 397 – 398 prognosis, 398 treatment, 398 – 399 Chronic obstructive pulmonary disease (COPD): case presentation, 19 – 21 commentary, 21 – 23 pulmonary disease, 19 – 23 pulmonary function tests, 21 treatment, 23 Chronic renal failure, 65 – 74 See also Acute renal failure case presentation, 65 – 66 chemistry and hematology, 67 – 69 acidosis, 69 anemia, 69 azotemia, 68 electrolytes, 68 –69 proteinuria, 67 – 68 creatinine assays, 73 defined, 66 –67 diagnosis, 69 glomerular filtration rate (GFR) estimation, 69 – 70 Modification of Diet in Renal Disease Study (MDRD) equation for glomerular filtration rate (GFR), 71 – 72 treatment, 73 – 74 Chronic sinusitis, pain management, pharmacogenomics, 539 – 542 Cirrhosis, ascites, 99 – 102 See also Ascites; Liver disease 668 Index “Club drug” abuse, 557– 560 Coagulation factors, protein C and, venous thromboembolism (hereditary), 456 Coagulation factor V Leiden hypercoaguability, 551 – 554 case presentation, 551– 552 defined, 552– 553 differential diagnosis, 553 treatment, 553– 554 Cocaine abuse See also “Club drug” abuse; Drug abuse acute myocardial infarction, 11– 15 intravenous cocaine, Hepatitis C, 111 Cockcroft –Gault equation, glomerular filtration rate (GFR) estimation, 70 Cold agglutinin disease, 491– 495 case presentation, 491– 492 defined, 492– 493 differential diagnosis, 493 paroxysmal cold hemoglobinuria, 494– 495 pathophysiology, 493– 494 treatment, 494 Colitis, thiopurine pharmacogenetics, 543– 549 Collagen crosslinks, bone markers, 230 Colle’s fracture See Osteoporosis Congenital adrenal hyperplasia (CAH), 149– 154 case presentation, 149– 150 clinical features, 151– 152 commentary, 154 defined, 150– 151 diagnosis, 152– 154 treatment, 154 Conn’s syndrome See Primary hyperaldosteronism (Conn’s syndrome) Coronary heart disease (CHD), 575– 579 case presentation, 575– 576 defined, 576 differential diagnosis, 576– 577 pathogenesis, 577 treatment and prevention, 577– 579 Cough, chronic obstructive pulmonary disease (COPD), 22 Creatinine assays, chronic renal failure, 73 Cryptococcus neoformans antigen, West Nile virus infection, 330 Cultures, Helicobacter pylori infection, 325 Cushing syndrome, 155– 165 case presentation, 155– 159 defined, 159– 161 diagnosis, 162– 163 diagnostic testing, 163– 164 differential diagnosis, 161– 162 treatment, 165 Cyclosporine A (CsA) metabolism, 533 – 537 See also End-stage renal disease (ESRD) osteodystrophy; Renal transplant cyclosporin toxicity case presentation, 533 – 535 “personalized medicine” approach, 535 – 536 Cystic fibrosis, 25 –30 case presentations, 25 – 27 defined, 27 differential diagnosis, 27 – 28 pathogenesis, 28 – 30 treatment, 30 Depression, Wilson’s disease, 91 – 97 See also Wilson’s disease Diabetes mellitus, 197 – 215 case presentation, 199 – 200 Cushing syndrome, 161 defined, 200 – 201 differential diagnosis, 201 hypoglycemia, 211 – 215 case presentation, 211 –212 defined, 212 – 213 differential diagnosis, 213 – 214 pathogenesis, 214 treatment, 215 ketoacidosis, 205 – 209 case presentation, 205 –206 defined, 206 differential diagnosis, 206 – 207 pathogenesis, 207 – 208 treatment, 208 pathogenesis, 201 – 202 treatment, 202 – 203 Diabetes mellitus type 1, defined, 200 Diabetes mellitus type 2: defined, 200 – 201 nonalcoholic fatty liver disease (NAFLD), 124, 127 Disseminated intravascular coagulation (DIC), acute promyelocytic leukemia (APL) with, 383 – 385 See also Acute promyelocytic leukemia (APL) with disseminated intravascular coagulation (DIC) Drug abuse: “club drug” abuse, 557 – 560 cocaine abuse, acute myocardial infarction, 11 –15 intravenous cocaine, Hepatitis C, 111 opioids, 561 – 565 Dyspnea, chronic obstructive pulmonary disease (COPD), 23 Index Ecchymoses, acute promyelocytic leukemia (APL) with DIC, 379– 385 Edema: chronic obstructive pulmonary disease (COPD), 23 nephrotic syndrome, 55– 63 (See also Nephrotic syndrome) Electrolytes, chronic renal failure, 68–69 Emphysema, chronic obstructive pulmonary disease (COPD), 21– 22 Endoscopy, Helicobacter pylori infection, 324 End-stage renal disease (ESRD) osteodystrophy, 219 – 224 See also Cyclosporine A (CsA) metabolism case presentation, 219– 220 defined, 220– 221 differential diagnosis, 222– 223 pathogenesis, 221– 222 treatment, 223 Epstein – Barr virus (EBV), 301– 304 case presentation, 301– 302 defined, 302– 303 differential diagnosis, 303– 304 treatment, 304 Erythrocytosis, thombocytosis and, polycythemia vera differential diagnosis, 402– 404 Familial hypercholesterolemia, sitosterolemia differential diagnosis, 591 Focal segmental glomerulosclerosis (FSGC), nephrotic syndrome, 57– 62 See also Nephrotic syndrome Foot ulcer See T-cell leukemia (lymphoma, peripheral) Gadolinium, calcium values, 637– 639 Genetically inherited disease, 255– 298 Angelman syndrome (AS), 287– 291 case presentation, 287– 288 defined, 288 diagnosis, 289– 291 pathogenesis, 288– 289 prognosis, 291 hemochromatosis, 293– 298 case presentation, 293– 294 defined, 294– 295 differential diagnosis, 295– 296 iron overload diagnosis, 296– 297 pathogenesis, 295 screening for, 298 treatment, 297 isovaleric acidemia (IVA), 281– 286 case presentation, 281– 283 defined, 283– 284 669 differential diagnosis, 285 – 286 pathogenesis, 284 – 285 treatment, 286 maple syrup urine disease, 275 – 280 case presentation, 275 – 277 defined, 277 differential diagnosis, 278 – 279 pathogenesis, 278 treatment, 279 medium-chain acyl CoA dehydrogenase (MCAD), 255 – 261 case presentation, 255 – 258 defined, 258 differential diagnosis, 260 pathogenesis, 258 – 259 prognosis and treatment, 260 – 261 methylmalonic acidemia, 263 – 267 case presentation, 263 – 264 defined, 264 – 265 differential diagnosis, 266 – 267 pathogenesis, 265 – 266 prognosis and treatment, 267 ornithine transcarbamylase (OTC) deficiency, 269 – 273 case presentation, 269 – 270 defined, 271 differential diagnosis, 271 – 272 patient outcome, 270 – 271 treatment, 272 Germ cell tumor, 355 – 362 case presentation, 355 defined, 355 – 357 human chorionic gonadotropin (hCG), 357 –358 human chorionic gonadotropin (hCG) assays, 358 – 359 laboratory investigation, 359 –361 Gestational trophoblastic disease, 363 – 368 case presentation, 363 – 364 defined, 364 – 365 differential diagnosis, 365 – 366 pathogenesis, 366 treatment, 366 – 367 Gilbert’s syndrome, 105 – 109 case presentation, 105 – 106 defined, 106 differential diagnosis, 107 pathogenesis, 107 – 109 treatment, 109 Glomerular filtration rate (GFR, chronic renal failure), 66 – 74 See also Chronic renal failure estimation of, 69 – 70 Modification of Diet in Renal Disease Study (MDRD) equation, 71 – 72 670 Index Glomerular nephritis, 49– 53 Gout, 643 – 647 case presentation, 643– 644 clinical features, 646 definition and classification, 645– 646 diagnosis, 646– 647 differential diagnosis, 644– 645 treatment, 647 Graves disease, 131– 137 case presentation, 131– 132 defined, 132– 133 diagnosis, 134– 136 differential diagnosis, 133– 134 treatment, 136 Haemophilus influenzae: chronic obstructive pulmonary disease (COPD), 21 sinusitis, 539 Hashimoto’s thyroiditis, 139– 142 case presentation, 139– 140 defined, 140 diagnosis, 141– 142 etiology, 140– 141 treatment, 142 Helicobacter pylori infection, 319– 327 case presentation, 319– 320 defined, 321– 322 diagnosis, 323– 326 symptoms, 322 treatment, 326 Hematologic disorders (benign), 409–509 anemia with chronic disease, 419– 423 case presentation, 419– 420 differential diagnosis, 420– 421 treatment, 421– 422 cold agglutinin disease, 491– 495 case presentation, 491– 492 defined, 492– 493 differential diagnosis, 493 paroxysmal cold hemoglobinuria, 494–495 pathophysiology, 493– 494 treatment, 494 hemolytic disease (Rh), 497– 501 case presentation, 497– 498 defined, 498 laboratory testing, 500– 501 pathogenesis, 498–499 prevention and diagnosis, 499– 500 hemophilia, 443– 451 bleeding disorders, 449– 450 case presentation, 443– 444 clinical aspects, 444– 445 complications, 446– 447 diagnosis, 447 – 448 genetics, 445 – 446 treatment, 448 – 449 heparin-induced thrombocytopenia (HIT), 435 – 441 case presentation, 435 –437 commentary, 441 defined, 438 differential diagnosis, 437 laboratory detection of antibodies, 439 –440 management, 440 – 441 pathophysiology, 438 – 439 hereditary spherocytosis (HS), 503 – 509 case presentation, 503 –505 defined, 505 – 506 differential diagnosis, 506 – 507 pathogenesis, 507 – 508 spherocytosis diagnosis, 507 treatment, 509 pernicious anemia (PA), 425 – 433 case presentation, 425 –427 clinical features, 431 defined, 427 – 429 diagnosis, 431 – 432 pathophysiology, 429 – 430 treatment, 432 – 433 qualitative platelet disorder, 465 – 474 case presentation, 465 –466 diagnosis, 469 – 473 differential diagnosis, 466 – 469 treatment, 473 sickle cell disease, 411 – 417 case presentation, 411 –412 differential diagnosis, 412 – 415 pathophysiology, 415 treatment, 415 – 416 thrombotic thrombocytopenic purpura (TTP), 485 – 490 case presentation, 485 –486 clinical presentation, 487 –488 differential diagnosis, 486 – 487 pathophysiology, 488 testing and management, 488 treatment, 489 venous thromboembolism (acquired), 459 – 464 antiphospholipid syndrome, 461 clinical presentation, 463 – 464 diagnosis, 461 – 462 pathophysiology, 462 – 463 thrombosis and, 462 treatment, 464 case presentation, 459 –461 Index venous thromboembolism (hereditary), 453– 457 case presentation, 453– 454 defined, 456 diagnosis, 454– 455 hyperhomocysteinemia, 456–457 protein C and coagulation factors, 456 prothrombin gene mutation G20210A, 456 testing for, 455 treatment, 457 von Willebrand disease, 475– 483 case presentation, 475– 476 defined, 480 diagnosis, 481– 482 differential diagnosis, 476– 479 management, 482– 483 molecular dynamics, 479 Hematologic disorders (malignant), 369– 407 acute promyelocytic leukemia (APL) with DIC, 379 – 385 acute leukemia forms, 381 case presentation, 379– 381 diagnosis, 382 disseminated intravascular coagulation complications, 383– 385 pathology, 381– 382 treatment, 382– 383 chronic lymphocytic leukemia (CLL) with autoimmune hemolytic anemia (AHA), 371 – 377 case presentation, 371– 372 diagnosis, 372– 374 differential diagnosis, 374– 376 prognosis, 374 treatment, 377 chronic myelogenous leukemia (CML), 393– 399 case presentation, 393 confirmation tests, 395– 396 cytogenics, 396– 397 defined, 396 differential diagnosis, 394– 395 genetic diagnosis, 397– 398 prognosis, 398 treatment, 398– 399 polycythemia vera, 401– 407 case presentation, 401– 402 clinical follow-up, 402 defined, 404 diagnosis, 404– 405 differential diagnosis, 402– 404 pathogenesis, 405– 406 prognosis, 407 treatment, 406– 407 671 T-cell leukemia (lymphoma, peripheral), 387 – 391 case presentation, 387 – 388 differential diagnosis, 388 – 389 incidence and characteristics, 389 – 390 treatment, 390 – 391 Heme pathway, porphyrias and, 516 – 520 Hemochromatosis, 293 – 298 case presentation, 293 – 294 defined, 294 – 295 differential diagnosis, 295 – 296 iron overload diagnosis, 296 – 297 pathogenesis, 295 screening for, 298 treatment, 297 Hemolytic disease (Rh), 497 – 501 case presentation, 497 – 498 defined, 498 laboratory testing, 500 –501 pathogenesis, 498 – 499 prevention and diagnosis, 499 – 500 Hemophilia, 443 – 451 bleeding disorders, 449 –450 case presentation, 443 – 444 clinical aspects, 444 – 445 complications, 446 –447 diagnosis, 447 – 448 genetics, 445 – 446 treatment, 448 – 449 Hemophilus influenza, cystic fibrosis, 27 Hemoptysis, glomerular nephritis, 49 –53 Hemostasis disorders, differential diagnosis, 476 – 479 See also Von Willebrand disease Heparin-induced thrombocytopenia (HIT), 435 –441 case presentation, 435 – 437 commentary, 441 defined, 438 differential diagnosis, 437 laboratory detection of antibodies, 439 – 440 management, 440 –441 pathophysiology, 438 – 439 Hepatic porphyria, acute intermittent porphyria, 520 – 521 See also Acute intermittent porphyria Hepatitis, Wilson’s disease, 91 – 97 See also Wilson’s disease Hepatitis A virus, 114 – 115 Hepatitis B virus, 115 – 116 Hepatitis C, 111 – 120 case presentation, 111 – 114 classification, 114 – 119 treatment, 119 Hepatitis C virus, 116 – 119 Hepatolenticular degeneration See Wilson’s disease 672 Index Hereditary hemochromatosis (HH): pathophysiology, diagnosis, and management, 102 – 104 porphyria cutanea tarda (PCT), 528– 529 treatment, 529– 530 Hereditary spherocytosis (HS), 503– 509 case presentation, 503– 505 defined, 505– 506 diagnosis, 507 differential diagnosis, 506– 507 pathogenesis, 507– 508 treatment, 509 Hereditary venous thromboembolism See Venous thromboembolism (hereditary) Heterophile antibody errors: HAA antibodies, 617– 622 case presentation, 617– 618 interference mechanism, 619– 620 problem definition, 618 prolactinomas, 623– 627 case presentation, 623– 624 defined, 624 differential diagnosis, 624– 625 “hook effect,” 625– 626 treatment, 627 Histology, Helicobacter pylori infection, 324 Human chorionic gonadotropin (hCG), germ cell tumor, 357– 359 Human glandular kallikrein 2, prostate cancer diagnosis, 352 Human leukocyte antigen (HLA) matching, renal transplant cyclosporin toxicity, 43 Hyperhomocysteinemia, venous thromboembolism (hereditary), 456– 457 Hyperlipidemia, nonalcoholic fatty liver disease (NAFLD), 124, 127 Hyperparathyroidism, 233– 239 case presentation, 233– 234 defined, 234– 236 differential diagnosis, 236– 238 treatment, 238 Hypertension, Cushing syndrome, 155– 165 See also Cushing syndrome Hyperthyroidism, Graves disease, 132 Hypoalbuminemia, nephrotic syndrome, differential diagnosis, 59 Hypoalphalipoproteinemia See Tangier disease Hypocalcemia, differential diagnosis, 637 Hypocholesterolemia, abetalipoproteinemia differential diagnosis, 587 Hypoglycemia, 211–215 case presentation, 211– 212 defined, 212– 213 differential diagnosis, 213 – 214 pathogenesis, 214 treatment, 215 Hyponatremia, chronic, syndrome of inappropriate secretion of antiduretic hormone (SIADH), 79 – 87 See also syndrome of inappropriate secretion of antiduretic hormone (SIADH) Hypothyroidism, Hashimoto’s thyroiditis, 139 – 142 See also Hashimoto’s thyroiditis Infectious disease, 299 – 333 allergic bronchopulmonary aspergillosis (ABPA), 315 – 318 case presentation, 315 –316 defined, 316 – 317 differential diagnosis, 317 treatment, 317 – 318 Epstein –Barr virus (EBV), 301 – 304 case presentation, 301 –302 defined, 302 – 303 differential diagnosis, 303 – 304 treatment, 304 Helicobacter pylori, 319 – 327 case presentation, 319 –320 defined, 321 – 322 diagnosis, 323 – 326 symptoms, 322 treatment, 326 Lyme disease, 311 – 314 case presentation, 311 defined, 311 – 312 differential diagnosis, 313 – 314 treatment, 314 neurosyphilis, 305 – 309 case presentation, 305 –306 defined, 306 – 307 differential diagnosis, 307 – 308 treatment, 308 – 309 pain management, pharmacogenomics, 539 – 542 West Nile virus infection, 329 – 333 case presentation, 329 –330 defined, 330 differential diagnosis, 331 – 332 pathogenesis, 332 treatment, 332 – 333 Inferior petrosal venous sinus sampling (IPSS), Cushing syndrome, 164 Infertility, Cushing syndrome, 155 – 165 See also Cushing syndrome Insulinlike growth factors (IGFs), prostate cancer diagnosis, 352 – 353 Insulin resistance (IR), nonalcoholic fatty liver disease (NAFLD), 125 Index Intravascular coagulation, disseminated (DIC) See Acute promyelocytic leukemia (APL) with disseminated intravascular coagulation (DIC) Intravenous cocaine, Hepatitis C, 111 Iodine deficiency, Hashimoto’s thyroiditis, 140– 141 Iron overload, hemochromatosis, 296– 297 Isovaleric acidemia (IVA), 281–286 case presentation, 281– 283 defined, 283– 284 differential diagnosis, 285– 286 pathogenesis, 284– 285 treatment, 286 Jaundice See Hereditary spherocytosis (HS) Ketoacidosis, 205– 209 case presentation, 205– 206 defined, 206 differential diagnosis, 206– 207 pathogenesis, 207– 208 treatment, 208 Leukemia See Acute promyelocytic leukemia (APL) with disseminated intravascular coagulation (DIC); Chronic lymphocytic leukemia (CLL) with autoimmune hemolytic anemia (AHA); Chronic myelogenous leukemia (CML); Hematologic disorders (malignant); T-cell leukemia (lymphoma, peripheral) Leukopenia: acute promyelocytic leukemia (APL) with DIC, 379 – 385 thiopurine pharmacogenetics, 543– 549 Lipid disorders, 573– 592 abetalipoproteinemia, 585– 588 case presentation, 585– 586 defined, 586– 587 differential diagnosis, 587 treatment, 587 coronary heart disease, 575– 579 coronary heart disease (CHD): case presentation, 575– 576 defined, 576 differential diagnosis, 576– 577 pathogenesis, 577 treatment and prevention, 577– 579 sitosterolemia, 589– 592 case presentation, 589– 590 defined, 590 differential diagnosis, 590– 591 treatment, 591 Tangier disease, 581– 584 case presentation, 581– 582 defined, 582– 583 673 differential diagnosis, 583 – 584 treatment, 584 Liver disease, 89 – 128 ascites, 99 – 102 case presentation, 99 – 101 evaluation and management, 101 – 102 Gilbert’s syndrome, 105 –109 case presentation, 105 – 106 defined, 106 differential diagnosis, 107 pathogenesis, 107 – 109 treatment, 109 hepatitis C, 111 – 120 case presentation, 111 – 114 classification, 114 – 119 treatment, 119 hereditary hemochromatosis (HH), 102 –104 nonalcoholic fatty liver disease (NAFLD), 121 – 128 case presentation, 121 – 123 clinical presentation, 126 defined, 123 epidemiology, 123 – 124 natural history, 124 pathogenesis, 125 pathology, 124 – 125 treatment, 126 – 128 Wilson’s disease, 91 – 97 case presentation, 91 – 93 commentary, 95 –96 manifestations of, 94 –95 pathophysiology, 94 treatment, 96 – 97 Lung cancer, chronic hyponatremia with, syndrome of inappropriate secretion of antiduretic hormone (SIADH), 79– 87 See also Syndrome of inappropriate secretion of antiduretic hormone (SIADH) Lyme disease, 311 – 314 case presentation, 311 defined, 311 – 312 differential diagnosis, 313 – 314 treatment, 314 Lymphocytosis See Chronic lymphocytic leukemia (CLL) with autoimmune hemolytic anemia (AHA) Lymphoma See T-cell leukemia (lymphoma, peripheral) Macronodular adrenal dysplasia, Cushing syndrome, 161 Magentic resonance imaging (MRI), Cushing syndrome, 164 674 Index Malignancies See Hematologic disorders (malignant); Nonhematologic malignancies Maple syrup urine disease (MSLID), 275– 280 case presentation, 275– 277 defined, 277 differential diagnosis, 278– 279 pathogenesis, 278 treatment, 279 Medium-chain acyl CoA dehydrogenase (MCAD), 255– 261 case presentation, 255– 258 defined, 258 differential diagnosis, 260 pathogenesis, 258– 259 prognosis and treatment, 260– 261 Medullary thyroid carcinoma (MTC), 143– 146 case presentation, 143– 144 defined, 144 differential diagnosis, 145 treatment, 145– 146 Metabolic acidosis, 567– 572 case presentation, 567– 568 defined, 568– 570 differential diagnosis, 570– 571 with oliguria, renal transplant cyclosporin toxicity, 41– 47 (See also Renal transplant cyclosporin toxicity) treatment, 571– 572 Methylmalonic acidemia, 263– 267 case presentation, 263– 264 defined, 264– 265 differential diagnosis, 266– 267 pathogenesis, 265– 266 prognosis and treatment, 267 Microangiopathic hemolytic anemia (MAHA), thrombotic thrombocytopenic purpura (TTP), 486– 487 Modification of Diet in Renal Disease Study (MDRD) equation, for glomerular filtration rate (GFR), chronic renal failure, 71– 72 Moraxella catarrhalis, sinusitis, 539 Multiple endocrine neoplasia (MEN) syndrome, 183 – 188 See also Pheochromocytoma case presentation, 183– 184 classification, 185– 187 defined, 184– 185 diagnosis, 185 differential diagnosis, 185 pheochromocytoma, 183– 188 Myelogenous leukemia See Chronic myelogenous leukemia (CML) Nephritis, nephrosis and, nephrotic syndrome, 57 –58 Nephrosis, nephritis and, nephrotic syndrome, 57 –58 Nephrotic syndrome, 55 – 63 case presentation, 55 – 57 clinical findings, 57 commentary, 62 differential diagnosis, 59 laboratory results, 59 – 61 pathophysiology, 57– 59 treatment, 61 – 62 Neurosyphilis, 305 – 309 case presentation, 305 – 306 defined, 306 – 307 differential diagnosis, 307 – 308 treatment, 308 – 309 Nonalcoholic fatty liver disease (NAFLD), 121 – 128 case presentation, 121 – 123 clinical presentation, 126 defined, 123 epidemiology, 123 – 124 natural history, 124 pathogenesis, 125 pathology, 124 – 125 treatment, 126 – 128 Nonhematologic malignancies, 335 – 368 breast cancer, 337 – 341 case presentation, 337 defined, 337 – 338 differential diagnosis, 338 – 339 treatment, 339 – 340 germ cell tumor, 355 – 362 case presentation, 355 defined, 355 – 357 human chorionic gonadotropin (hCG), 357 – 358 human chorionic gonadotropin (hCG) assays, 358 – 359 laboratory investigation, 359 – 361 gestational trophoblastic disease, 363 –368 case presentation, 363 –364 defined, 364 – 365 differential diagnosis, 365 – 366 pathogenesis, 366 treatment, 366 – 367 ovarian cancer, 343 – 347 case presentation, 343 –344 defined, 344 – 345 differential diagnosis, 345 – 346 treatment, 346 – 347 prostate cancer, 349 –354 case presentation, 349 –350 defined, 350 differential diagnosis, 351 – 353 Index pathophysiology, 350–351 screening, 353 treatment, 353 Non-ST-segment elevation AMI (NSTEMI), acute myocardial infarction, 4, 6, 7, – 9, 11 Obesity, nonalcoholic fatty liver disease (NAFLD), 124, 127 Oliguria, with metabolic acidosis, renal transplant cyclosporin toxicity, 41– 47 See also Renal transplant cyclosporin toxicity Opioid drug abuse, 561– 565 Ornithine transcarbamylase (OTC) deficiency, 269 – 273 case presentation, 269– 270 defined, 271 differential diagnosis, 271– 272 patient outcome, 270– 271 treatment, 272 Osteocalcin, bone markers, 230 Osteodystrophy See Renal osteodystrophy; Renal osteodystrophy (end-stage renal disease) Osteoporosis, 225– 231 bone markers, 229– 231 case presentation, 225– 226 defined, 226– 228 diagnosis, 228 treatment and monitoring, 229 Ovarian cancer, 343–347 case presentation, 343– 344 defined, 344– 345 differential diagnosis, 345– 346 treatment, 346– 347 Pain management, pharmacogenomics, 539– 542 Pancytopenia, thiopurine pharmacogenetics, 543 – 549 Papillary thyroid carcinoma See Medullary thyroid carcinoma (MTC) Parathyroid hormone (PTH): hyperparathyroidism, 233– 239 case presentation, 233– 234 defined, 234– 236 differential diagnosis, 236– 238 treatment, 238 osteoporosis, 227– 228 renal osteodystrophy, 75– 78, 220– 223 Paroxysmal cold hemoglobinuria, cold agglutinin disease, 494– 495 PCR amplification, Helicobacter pylori infection, 325 – 326 Peripheral T-cell leukemia (lymphoma) See T-cell leukemia (lymphoma, peripheral) 675 Pernicious anemia (PA), 425 – 433 case presentation, 425 – 427 clinical features, 431 defined, 427 – 429 diagnosis, 431 – 432 pathophysiology, 429 – 430 treatment, 432 – 433 “Personalized medicine” approach, cyclosporine A (CsA) metabolism, 535 – 536 Pharmacogenomics, 531 – 554 See also Toxicology coagulation factor V Leiden hypercoaguability, 551 – 554 case presentation, 551 – 552 defined, 552 – 553 differential diagnosis, 553 treatment, 553 – 554 cyclosporine A (CsA) metabolism, 533 –537 case presentation, 533 – 535 “personalized medicine” approach, 535 – 536 opioid drug abuse, 564 – 565 pain management, 539 – 542 thiopurine, 543 – 549 case presentation, 543 – 544 diagnosis, 548 differential diagnosis, 544 dynamics of, 546 – 547 metabolism and toxicity, 544 – 546 treatment, 548 Pheochromocytoma, 189 – 195 See also Multiple endocrine neoplasia (MEN) syndrome case presentation, 189 – 191 defined, 191 – 192 differential diagnosis, 192 – 195 multiple endocrine neoplasia (MEN) syndrome, 183 – 188 Platelet disorder See Qualitative platelet disorder Pneumonia: acute promyelocytic leukemia (APL) with DIC, 379 – 385 sickle cell disease, 411 – 417 Polycythemia vera, 401 – 407 case presentation, 401 – 402 clinical follow-up, 402 defined, 404 diagnosis, 404 – 405 differential diagnosis, 402 – 404 pathogenesis, 405 – 406 prognosis, 407 treatment, 406 – 407 Porphyria cutanea tarda (PCT), 523 – 530 case presentation, 523 – 524 clinical features, 526 defined, 525 – 526 676 Index Porphyria cutanea tarda (Continued) diagnosis, 527– 528 generally, 524– 525 hereditary hemochromatosis (HH) and, 528– 529 pathophysiology, 526– 527 treatment, 529– 530 Porphyrias, 511– 530 acute intermittent porphyria, 513–522 case presentation, 513– 516 definitions, 516– 520 diagnosis, 520– 521 porphyria cutanea tarda (PCT), 523– 530 case presentation, 523– 524 clinical features, 526 defined, 525– 526 diagnosis, 527– 528 generally, 524– 525 hereditary hemochromatosis (HH) and, 528– 529 pathophysiology, 526– 527 treatment, 529– 530 Prerenal azotermia, acute renal failure, differential diagnosis, 38– 39 Primary hyperaldosteronism (Conn’s syndrome), 175 – 182 case presentation, 175– 177 defined, 177– 178 diagnosis confirmation and subtype differentiation, 180 – 181 differential diagnosis and screening, 178– 180 treatment, 181 Primary micronodular hyperplasia, Cushing syndrome, 161 Prolactinomas (heterophile antibodies), 623– 627 case presentation, 623– 624 defined, 624 differential diagnosis, 624– 625 “hook effect,” 625– 626 treatment, 627 Prostate cancer, 349– 354 See also Urinary tract and prostate errors case presentation, 349– 350 defined, 350 differential diagnosis, 351– 353 pathophysiology, 350– 351 screening, 353 treatment, 353 Prostate-specific antigen (PSA), prostate cancer diagnosis, 351– 352 Prostatic acid phosphatase (PAP), prostate cancer diagnosis, 352 Protein C, coagulation factors and, venous thromboembolism (hereditary), 456 Proteinuria, chronic renal failure, 67 – 68 Prothrombin gene mutation G20210A, venous thromboembolism (hereditary), 456 Pseudohyponatremia, syndrome of inappropriate secretion of antiduretic hormone (SIADH), 84 Pseudomonas aeruginosa, cystic fibrosis, 27 Pulmonary disease, 17 – 30 chronic obstructive pulmonary disease (COPD), 19 – 23 case presentation, 19– 21 commentary, 21 – 23 pulmonary function tests, 21 treatment, 23 cystic fibrosis, 25 – 30 case presentations, 25 – 27 defined, 27 differential diagnosis, 27 – 28 pathogenesis, 28 – 30 treatment, 30 Pulmonary function tests, chronic obstructive pulmonary disease (COPD), 21 Pulmonary infiltration, glomerular nephritis, 49 – 53 Qualitative platelet disorder: case presentation, 465 – 466 diagnosis, 469 –473 differential diagnosis, 466 – 469 hematologic disorders (benign), 465 – 474 treatment, 473 Renal disease, 31 – 87 See also Cyclosporine A (CsA) metabolism acute renal failure, 31– 39 case presentation, 31– 36 differential diagnosis, 37 – 39 treatment, 39 anemia with chronic disease, 419 – 423 case presentation, 419 –420 differential diagnosis, 420 – 421 treatment, 421 – 422 chronic renal failure, 65 –74 case presentation, 65– 66 chemistry and hematology, 67 – 69 acidosis, 69 anemia, 69 azotemia, 68 electrolytes, 68 – 69 proteinuria, 67 – 68 creatinine assays, 73 defined, 66 – 67 diagnosis, 69 Index glomerular filtration rate (GFR) estimation, 69– 70 Modification of Diet in Renal Disease Study (MDRD) equation for glomerular filtration rate (GFR), 71– 72 treatment, 73– 74 glomerular nephritis, 49– 53 nephrotic syndrome, 55– 63 case presentation, 55– 57 clinical findings, 57 commentary, 62 differential diagnosis, 59 laboratory results, 59– 61 pathophysiology, 57–59 treatment, 61– 62 osteodystrophy, 75– 78 case presentation, 75 defined, 75– 76 differential diagnosis, 76– 77 treatment, 77– 78 osteodystrophy (end-stage renal disease), 219– 224 case presentation, 219– 220 defined, 220– 221 differential diagnosis, 222– 223 pathogenesis, 221– 222 treatment, 223 renal transplant cyclosporin toxicity, 41– 47 allograft rejection, 44–45 calcineurin inhibitor effects and toxicity, 43– 44 case presentation, 41– 43 human leukocyte antigen (HLA) matching, 43 renal tubular acidosis (RTA), 45– 47 uremic acidosis, 45 syndrome of inappropriate secretion of antiduretic hormone (SIADH), 79– 87 case presentation, 79– 80 clinical features, 84 defined, 82 differential diagnosis, 80– 82 laboratory findings, 84– 86 ADH and renin measurements, 86 pseudohyponatremia, 84 serum osmolality, 84– 86 water-loading test, 86 pathogenesis, 82– 84 treatment, 86– 87 Renal failure See Acute renal failure; Chronic renal failure; Renal disease Renal osteodystrophy, 75– 78 case presentation, 75 defined, 75– 76 differential diagnosis, 76– 77 treatment, 77– 78 677 Renal osteodystrophy (end-stage renal disease), 219 – 224 case presentation, 219 – 220 defined, 220 – 221 differential diagnosis, 222 – 223 pathogenesis, 221 – 222 treatment, 223 Renal transplant cyclosporin toxicity, 41 – 47 See also Cyclosporine A (CsA) metabolism; End-stage renal disease (ESRD) osteodystrophy allograft rejection, 44 – 45 calcineurin inhibitor effects and toxicity, 43 – 44 case presentation, 41 – 43 human leukocyte antigen (HLA) matching, 43 renal tubular acidosis (RTA), 45 – 47 uremic acidosis, 45 Renal tubular acidosis (RTA), renal transplant cyclosporin toxicity, 45 –47 Renin measurements, ADH and, syndrome of inappropriate secretion of antiduretic hormone (SIADH), 86 Rheumatoid arthritis, 595 – 600 case presentation, 595 – 596 clinical features, 595 diagnosis, 595 – 599 pathophysiology, 595 treatment, 599 – 600 Rh hemolytic disease (Rh) See Hemolytic disease (Rh) Seizures, hyperparathyroidism, 233 – 239 Serology, Helicobacter pylori infection, 324 Serum osmolality, syndrome of inappropriate secretion of antiduretic hormone (SIADH), 84 – 86 Sickle cell disease, 411 – 417 case presentation, 411 – 412 differential diagnosis, 412 – 415 pathophysiology, 415 treatment, 415 – 416 Sinus pain, pain management, pharmacogenomics, 539 – 542 Sitosterolemia, 589 – 592 case presentation, 589 – 590 defined, 590 differential diagnosis, 590 – 591 treatment, 591 Spherocytosis See Hereditary spherocytosis (HS) Splenomegaly, chronic myelogenous leukemia (CML), 395 Sputnum production, chronic obstructive pulmonary disease (COPD), 22 678 Index Staphylococcus aureus: cystic fibrosis, 27 sinusitis, 539 Stool antigen detection, Helicobacter pylori infection, 323 Streptococcus pneumoniae, sinusitis, 539 ST-segment elevation AMI (STEMI), acute myocardial infarction, 4, 6, 7, Syndrome of inappropriate secretion of antiduretic hormone (SIADH), 79– 87 case presentation, 79– 80 clinical features, 84 defined, 82 differential diagnosis, 80– 82 laboratory findings, 84– 86 ADH and renin measurements, 86 pseudohyponatremia, 84 serum osmolality, 84– 86 water-loading test, 86 pathogenesis, 82– 84 treatment, 86– 87 Syphilis See Neurosyphilis Systemic lupus erythematosus (SLE), 601– 607 case presentation, 601– 603 clinical features, 604 diagnosis, 604– 606 pathophysiology, 603– 604 treatment, 606 Tangier disease, 581– 584 case presentation, 581– 582 defined, 582– 583 differential diagnosis, 583– 584 treatment, 584 Tartrate-resistant acid phosphatase (TRAP), bone markers, 230 T-cell leukemia (lymphoma, peripheral), 387– 391 case presentation, 387– 388 differential diagnosis, 388– 389 incidence and characteristics, 389– 390 treatment, 390– 391 Thiopurine, 543–549 case presentation, 543– 544 diagnosis, 548 differential diagnosis, 544 drug-metabolizing enzymes, 548– 549 metabolism and toxicity, 544– 546 pharmacogenetics, 546– 547 treatment, 548 Thrombocytopenia See Heparin-induced thrombocytopenia (HIT) Thrombocytosis: chronic myelogenous leukemia (CML), 394 erythrocytosis and, polycythemia vera differential diagnosis, 402 – 404 Thromboembolism See Venous thromboembolism (acquired); Venous thromboembolism (hereditary) Thrombotic thrombocytopenic purpura (TTP), 485 – 490 acute renal failure, differential diagnosis, 37 – 38 case presentation, 485 – 486 clinical presentation, 487 – 488 differential diagnosis, 486 – 487 pathophysiology, 488 testing and management, 488 treatment, 489 Thyroid disease, 129 – 146 Graves disease, 131 – 137 case presentation, 131 –132 defined, 132 – 133 diagnosis, 134 – 136 differential diagnosis, 133 – 134 treatment, 136 Hashimoto’s thyroiditis, 139 – 142 case presentation, 139 –140 defined, 140 diagnosis, 141 – 142 etiology, 140 – 141 treatment, 142 hyperparathyroidism, 233 – 239 case presentation, 233 –234 defined, 234 – 236 differential diagnosis, 236 – 238 treatment, 238 medullary thyroid carcinoma (MTC), 143 – 146 case presentation, 143 –144 defined, 144 differential diagnosis, 145 treatment, 145 – 146 Thyrotoxicosis, Graves disease, 132 Thyrotropin-releasing hormone (TRH), Graves disease, 134 Toxicology, 555 – 572 See also Pharmacogenomics “club drug” use, 557 – 560 metabolic acidosis, 567 – 572 case presentation, 567 –568 defined, 568 – 570 differential diagnosis, 570 – 571 treatment, 571 – 572 opioid drug abuse, 561 – 565 Urease testing, Helicobacter pylori infection, 325 Uremia, glomerular nephritis, 49 – 53 Uremic acidosis, renal transplant cyclosporin toxicity, 45 Index Urinary tract and prostate errors, 629– 634 See also Prostate cancer case presentation, 629– 630 endogenous interfering antibodies, 630– 633 anti-animal immunoglobulin antibodies, 632 – 633 autoantibodies, 631– 632 immunoassays, 630– 631 follow-up, 630 interference detection and minimization, 633– 634 Urine production, nephrotic syndrome, 55– 63 See also Nephrotic syndrome Venous thromboembolism (acquired), 459– 464 antiphospholipid syndrome, 461 clinical presentation, 463– 464 diagnosis, 461– 462 pathophysiology, 462–463 thrombosis and, 462 treatment, 464 case presentation, 459– 461 Venous thromboembolism (hereditary), 453– 457 case presentation, 453– 454 defined, 456 diagnosis, 454–455 hyperhomocysteinemia, 456– 457 protein C and coagulation factors, 456 prothrombin gene mutation G20210A, 456 testing for, 455 treatment, 457 Venous thrombosis, coagulation factor V Leiden, 551 – 554 679 von Willebrand disease, 475 – 483 case presentation, 475 – 476 defined, 480 diagnosis, 481 – 482 differential diagnosis, 476 – 479 management, 482 –483 molecular dynamics, 479 Water-loading test, syndrome of inappropriate secretion of antiduretic hormone (SIADH), 86 Weight gain, Cushing syndrome, 155 – 165 See also Cushing syndrome West Nile virus infection, 329 – 333 case presentation, 329 – 330 defined, 330 differential diagnosis, 331 – 332 pathogenesis, 332 treatment, 332 – 333 Wilson’s disease, 91 – 97 case presentation, 91 – 93 commentary, 95 – 96 manifestations of, 94 – 95 pathophysiology, 94 treatment, 96 – 97 Xanthomas, sitosterolemia, 589 – 592 Zollinger – Ellison syndrome (ZES), 243 – 248 case presentation, 243 – 244 defined, 245 – 246 differential diagnosis, 246 – 247 follow-up, 244 treatment, 247 [...]... field of laboratory medicine, making it difficult for health care professionals to remain fluent in all aspects of laboratory testing Applied Laboratory Medicine, Second Edition provides a comprehensive overview of modern laboratory medicine in a “real-life” case-based format Each Case presents a patient with history and accompanying laboratory data This is followed by discussions of how the laboratory. .. 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