Chapter 4 Liver and Pancreas 87 Cholelithiasis ■ Essentials of Diagnosis • Episodic right upper quadrant abdominal pain. Risk factors include hemolysis, females with prior pregnancy, obesity, rapid weight loss, portal vein thrombosis, Native Americans and Hispanics, ileal disease or resection, cystic fibrosis, Wilson disease, and pro- longed IV nutrition • Elevated bilirubin, alkaline phosphatase, and GGT • Stones or sludge seen in gall bladder by US • Pigment stones most common up to 10 years; cholesterol stones most common in adolescents • US is the best diagnostic test ■ Differential Diagnosis • Parenchymal liver disease • Peptic disease • Cardiac disease • Pancreatitis • Renal stones • Subcapsular liver lesions—abscess, tumor hematoma • Right lower lobe pneumonia ■ Treatment • Cholecystectomy for symptomatic patients • Guidelines unclear for children with asymptomatic gall stones but surgery required in <20% of cases • Ursodeoxycholate and lithotripsy not approved for this indication ■ Pearl Gallstones are common harmless findings on prenatal ultrasound exam- inations. They resolve within several months of birth. 4 88 Current Essentials: Pediatrics Hepatic Cancer ■ Essentials of Diagnosis • Third most common intra-abdominal cancer of children • Abdominal enlargement, hepatomegaly, pain, weight loss, anemia, mass detected by abdominal computed tomography (CT) or US • Hepatoblastoma more common in male infants and associated with Beckwith Wiedemann syndrome, hemihypertrophy, familial adenomatous polyposis, prematurity • Hepatocellular carcinoma more common after 3 years of age. Associated with chronic HBV, HCV, cirrhosis, glycogen storage disease type I, tyrosinemia, α 1 -antitrypsin deficiency, anabolic steroids • US and CT examination required. Laparotomy for tissue biopsy required ■ Differential Diagnosis • Other conditions causing hepatomegaly—storage disease, cir- rhosis, vascular tumors, malnutrition, heart failure, veno-occlusive disease, hepatic vein thrombosis • Infection or abscess • Pancreatic tumors or cysts • Inflammatory pseudotumor or mesenteric cysts ■ Treatment • Aggressive surgical resection with resection of isolated lung metastases • Radiotherapy and chemotherapy are disappointing but may be used for tumor size reduction • Liver transplantation an option for hepatoblastoma only • Outcome of hepatocellular carcinoma may be better when tumor is associated with another of the disorders listed ■ Pearl Suspect hepatoblastoma in a male infant who develops galactorrhea. 4 Chapter 4 Liver and Pancreas 89 Acute Pancreatitis ■ Essentials of Diagnosis • Epigastric pain radiating to the back • Nausea and vomiting • Caused by drugs, infection, severe systemic disease (multiorgan system failure), abdominal trauma, hyperlipidemic states, pan- creatic duct obstruction (gall stones, cyst, pancreas divisum, extrin- sic tumors, ascariasis) • Elevated serum amylase and lipase. Monitor for hypocalcemia, electrolyte abnormalities, acidosis • CT scan or US showing pancreatic inflammation ■ Differential Diagnosis • Acute gastroenteritis • Atypical appendicitis • Cholelithiasis • Duodenal or gastric ulcer • Intussusception • Pneumonia • Nonaccidental trauma ■ Treatment • Intensive care may be needed for treatment of shock, fluid and electrolyte abnormalities, ileus, respiratory distress, hypocalcemia • Pain management • Acid suppression • Parenteral or jejunal nutrition • Surgery for stone obstruction or ruptured pancreas • Antibiotics only useful for identified infection or in necrotizing pancreatitis • Up to 20% of patients develop pseudocysts, but 2/3 of these resolve spontaneously ■ Pearl Newborn infants are relatively amylase deficient. Thus, when they have pancreatitis they may not have an elevated serum amylase. 4 90 Current Essentials: Pediatrics Exocrine Pancreatic Insufficiency ■ Essentials of Diagnosis • Maldigestion, steatorrhea, diarrhea, poor weight gain, hyperphagia • Most common cause is cystic fibrosis • Distant second cause is Shwachman-Diamond syndrome— exocrine insufficiency, neutropenia secondary to granulocyte mat- uration arrest, metaphysical dysostosis, and fatty replacement of the pancreas with short stature • Pancreatic stimulation with secretin and cholecystokinin (CCK) results in low or absent pancreatic enzyme secretion • Fecal fat excretion is >10% in children over 12 months, >15% in children under 12 months ■ Differential Diagnosis • Other rare causes of pancreatic insufficiency—Pearson bone marrow pancreas syndrome, congenital absence of the pancreas, duodenal atresia, or stenosis • Isolated trypsin deficiency usually caused by enterokinase deficiency • Malnutrition can cause temporary pancreatic insufficiency • Chronic and repeated pancreatitis cause exocrine deficiency ■ Treatment • Exogenous pancreatic enzyme replacement • In infants, formulas with hydrolyzed fats, proteins, and starches may be used • Supplemental fat-soluble vitamins • Maldigestion improves with age in Shwachman-Diamond syndrome ■ Pearl Newborn infants are relatively amylase deficient. Giving a young infant too much cereal (complex carbohydrate) may cause diarrhea because of amylase deficiency. 4 5 5 Kidney and Urinary Tract Polycystic Kidney Disease (PKD) 93 Glomerulonephritis (GN) 94 Interstitial Nephritis 95 Idiopathic Nephrotic Syndrome 96 Renal Vein Thrombosis 97 Hemolytic Uremic Syndrome (HUS) 98 Acute Renal Failure 99 Chronic Renal Failure 100 Hypertension 101 Renal Tubular Acidosis (RTA) 102 Urinary Tract Infection (UTI) 103 Henoch-Schönlein Purpura (HSP) 104 Renal Stones 105 91 Copyright © 2008 by The McGraw-Hill Companies, Inc. Click here for terms of use. This page intentionally left blank Chapter 5 Kidney and Urinary Tract 93 Polycystic Kidney Disease (PKD) ■ Essentials of Diagnosis • Cystic dilation of renal tubules—caused by tubular cell hyper- plasia, excess tubular fluid secretion, and abnormal tubular extra- cellular matrix • 90% are autosomal dominant (AD). May present in childhood but most present at 30–40 years with pain, hypertension, infec- tion, hematuria, enlarged kidneys, and renal failure • Autosomal recessive (AR) PKD—often diagnosed by prenatal ultrasound. Newborns may have abdominal mass, Potter facies, club foot, and other findings of oligohydramnios caused by in utero renal failure • Older infants with AR-PKD may present with congenital hepatic fibrosis, splenomegaly, portal hypertension, and variceal hemorrhage • Diagnosis made by finding renal cysts on ultrasound in patients with suggestive signs and symptoms ■ Differential Diagnosis • Other abdominal masses • Other causes of hypertension • Other structural urinary tract disorders with hematuria, protein- uria, and infection • Acquired renal cysts secondary to isolated duct ectasia or chronic renal disease • Medullary cystic disease—variable cysts in the medulla with Fanconi syndrome and renal failure ■ Treatment • 50% of patients with AD-PKD require dialysis or renal trans- plant. Much less likely in AR-PKD • Medical management of chronic renal insufficiency—decreased protein and sodium intake, calorie supplementation, vitamin D supplementation, antihypertensive medication (see section Chronic Renal Failure) • Portosystemic shunt and/or variceal banding to treat variceal hem- orrhage in patients with congenital hepatic fibrosis ■ Pearl The major genes associated with AD-PKD are on chromosome 16 (85%) and chromosome 4 (15%). These genes code for the proteins polycystin 1 and 2. Abnormal proteins appear to produce renal ciliary dysfunction leading to tubular fluid accumulation and cyst formation. 5 94 Current Essentials: Pediatrics Glomerulonephritis (GN) ■ Essentials of Diagnosis • Most common form is poststreptococcal GN after infection with group A β-hemolytic Streptococcus serotypes 12 (pharyngitis) and 49 (impetigo) • Antigen-antibody complexes form after infection and are deposited in glomeruli causing inflammation and complement consumption • Usual presentation—hematuria, oliguria, proteinuria, edema, sodium and water retention, hypertension, headache, flank pain • Diagnosis requires proof of recent group A β-hemolytic strepto- coccus (GAS) infection (tonsils or skin), high-titer anti- streptolysin O or other antistreptococcal antibodies, evidence of complement consumption • Other bacterial, viral, parasitic, and fungal infections may cause immune complex deposition and GN • Other conditions producing GN—immunoglobulin (IgA) nephropathy, HS purpura, membranoproliferative GN, systemic lupus erythematosus (SLE), hereditary GN (Alport syndrome), polyarteritis nodosa, Goodpasture syndrome, Berger disease ■ Differential Diagnosis • Nephrotic syndrome • Renal stones, renal vein thrombosis, infection, PKD • Drug hypersensitivity nephritis usually has associated tubuloint- erstitial component • Angioedema • Hypertension • Idiopathic hematuria • Renal tumor ■ Treatment • Most cases of poststreptococcal GN resolve without treatment • Antibiotics are given for persistent infection but do not change the course of disease • Treat hypertension—sodium and fluid restriction, diuretics and antihypertensives, corticosteroids (in severe cases) • Dialysis occasionally required ■ Pearl Although microscopic hematuria may persist for as long as a year, 85% of children with poststreptococcal GN recover completely. Severe pro- teinuria, atypical presentation, progressive renal insufficiency, or per- sistent hypocomplementemia suggest another entity. 5 Chapter 5 Kidney and Urinary Tract 95 Interstitial Nephritis ■ Essentials of Diagnosis • Diffuse or focal inflammation of renal interstitium with second- ary involvement of the tubules • Most often related to drug sensitivity—antibiotics (often β- lactams), anticonvulsants, nonsteroidal anti-inflammatory drugs (NSAIDs), thiazides, cimetidine, ranitidine. May be postinfectious • Fever, rigors, abdominal/flank pain, skin rash, hypertension. May present with acute renal failure. Eosinophilia often but not always present • Urinalysis shows white blood cells (WBCs) with eosinophils, hematuria, sometimes glucosuria, and low specific gravity because of tubular dysfunction • Biopsy may be needed if history and urinalysis are not diagnostic ■ Differential Diagnosis • Lead toxicity causes chronic interstitial nephritis • Acute urinary tract infection (UTI) • Lupus, Goodpasture syndrome • Renal transplant rejection ■ Treatment • Remove offending drug. Treat infection if present. Treat hyper- tension • Corticosteroids helpful • Dialysis for acute renal failure • Outcome generally good in drug-related nephritis. Progression to nephrotic syndrome or chronic renal failure may occur ■ Pearl The child with vesicoureteral reflux and recurrent infection is more likely to develop interstitial nephritis after infection that the child with a normal urinary tract. 5 96 Current Essentials: Pediatrics Idiopathic Nephrotic Syndrome ■ Essentials of Diagnosis • Proteinuria, hypoproteinemia, edema, and hyperlipidemia • Most common form of nephrotic syndrome in childhood is idio- pathic (nil disease, lipoid nephrosis, minimal change disease) • Generally affects children <6 years. Often postinfectious • Periorbital edema, peripheral edema, oliguria, malaise, abdomi- nal pain, ascites, pulmonary edema, pleural effusion, dyspnea • Urinary sediment often normal or with only microscopic hema- turia. Significant proteinuria. Low serum albumin. High serum cholesterol and triglycerides • Biopsy findings minor—mesangial foot process fusion, no immune deposits, occasional mesangial proliferation, or focal glomerular sclerosis ■ Differential Diagnosis • Any glomerular disease can produce the findings of nephrotic syndrome • Focal glomerular sclerosis • Mesangial nephropathy • Membranous nephropathy • Renal vein thrombosis may be the cause of nephrotic syndrome or may be caused by it • Congenital nephrosis—low birth weight, large placenta, widened cranial sutures, delayed ossification, edema, renal failure ■ Treatment • Daily prednisone (2 mg/kg/day; maximum 60 mg/day) for 6 weeks. Same dose every other day for 6 weeks. Gradual taper over 2–4 months as proteinuria resolves • Induce diuresis if necessary with intravenous (IV) albumin replacement followed by diuretics • Administer pneumococcal vaccine to children with ascites to reduce risk of bacterial peritonitis • Renal biopsy to rule out other disorders in patients with poor response to medications or relapse • Patients unresponsive or relapsing on corticosteroid—use chlo- rambucil, cyclophosphamide, tacrolimus, or cyclosporine A as adjuncts ■ Pearl The cause of idiopathic nephrotic syndrome is unknown. There appears to be increased risk in individuals with HLA type B8 DR3, DR7, and DQ2. Relapsing disease associated with oligoclonal expansion of T-cell subsets, especially CD8 + cells. 5 [...]... • Withdrawal of life-sustaining medical therapy requires sensitive education and support of family • • ■ Pearl The Task Force on Brain Death in Children published the most widely used criteria for brain death in Pediatrics 1987;80:298 30 0 The criteria are regularly reviewed and updated by the American Academy of Pediatrics 110 Current Essentials: Pediatrics Febrile Seizures ■ Essentials of Diagnosis... clinical diagnosis may be absent in infancy 118 Current Essentials: Pediatrics Ataxia ■ Essentials of Diagnosis Acute cerebellar ataxia—post-infectious syndrome of children 2–6 years old (varicella, rubeola, mumps, rubella, echovirus, polio, EBV, and influenza) involving trunk and extremities Normal CSF and head imaging • Polymyoclonus-opsoclonus—lightning-like jerking of extremities, truncal ataxia,... of essential tremor in children and adults 120 Current Essentials: Pediatrics Acute Flaccid Paralysis ■ Essentials of Diagnosis • • 6 • • • • ■ Anterior horn cells of the spinal cord may be damaged by infection (polio), immune-mediated inflammation (acute transverse myelitis) Spinal nerve trunks may be damaged by immune-mediated polyneuritis (Guillain-Barré syndrome) or toxins (diphtheria, porphyria)... brain growth and function are impacted or if cosmetic effects are severe • ■ Pearl Malformations of the nervous system occur in 1 3% of neonates and are present in 40% of neonates who die in the first 30 days of life 116 Current Essentials: Pediatrics Neurofibromatosis (NF) ■ Essentials of Diagnosis Type 1 NF is a genetic neuroectodermal disorder with 1:4000 prevalence 50% of cases are due to new mutations... Onset at 3 7 days, multifocal, brief, with spontaneous resolution Infantile spasms—onset 3 18 months, violent contractions of muscle groups, hypsarrhythmia on EEG, 90% have mental/ 6 motor retardation Generalized tonic-clonic (GTCS)—onset 3 11 years, family or personal history of febrile seizures, 3/ s spike wave EEG in 50% Absence seizures (petit mal)—onset 10–12 years, more frequent in boys, 3 4/s spike... present and attacks can be treated/prevented with migraine therapy 114 Current Essentials: Pediatrics Cerebrovascular Disease—Stroke, Hemorrhage, Vasculitis ■ Essentials of Diagnosis Stroke affects 2–8 in 100,000 children 10% cause death, 60–80% cause permanent neurologic deficit or seizures, 20 35 % of affected children have recurrent strokes • Etiologies—infection (Varicella, Mycoplasma HIV, bacterial... spell 112 Current Essentials: Pediatrics Syncope and Fainting ■ Essentials of Diagnosis • • • 6 • • • ■ Differential Diagnosis • • • • • • • ■ Prolonged QTc interval, ventricular tachycardia or fibrillation, or other arrhythmia, mitral valve prolapse, hypertrophic cardiomyopathy Hypercyanotic spell—tetralogy of Fallot Seizures Migraine Hypoglycemia Hysteria, hyperventilation, vertigo Pallid breath-holding... Voiding cystourethrogram (VCUG) is indicated in boys with first UTI Posterior urethral valve is the most common anatomic abnormality discovered in infant boys with UTI 5 104 Current Essentials: Pediatrics Henoch-Schönlein Purpura (HSP) ■ Essentials of Diagnosis • • • 5 • • • ■ Postinfectious leukocytoclastic vasculitis of children . prenatal ultrasound exam- inations. They resolve within several months of birth. 4 88 Current Essentials: Pediatrics Hepatic Cancer ■ Essentials of Diagnosis • Third most common intra-abdominal cancer. is the most common anatomic abnormality dis- covered in infant boys with UTI. 5 104 Current Essentials: Pediatrics Henoch-Schönlein Purpura (HSP) ■ Essentials of Diagnosis • Postinfectious leukocytoclastic. or drug toxicity. 5 100 Current Essentials: Pediatrics Chronic Renal Failure ■ Essentials of Diagnosis • In infants, most common causes are structural anomalies of kid- neys or urinary tract—renal