Idiopathic Neonatal Hepatitis Grace E. Kim, MD Key Facts Terminology Convenient term for clinical condition manifested by prolonged jaundice in neonates with variable but definable histologic picture Microscopic Pathology Predominately…
Progressive Familial Intrahepatic Cholestasis Joseph Misdraji, MD Key Facts Etiology/Pathogenesis PFIC1 is due to mutations of ATP8B1 (FIC1 gene) PFIC2 is due to mutations of ABCB11 gene that encodes bile…
Neonatal Hemochromatosis Matthew M. Yeh, MD, PhD Key Facts Clinical Issues Intrauterine growth retardation, oligohydramnios, stillborn or premature birth Liver and multiorgan failure Abnormal iron studies Macroscopic Features Shrunken liver…
Gaucher Disease Grace E. Kim, MD Key Facts Etiology/Pathogenesis Accumulation of glucocerebroside in phagocytic cells Autosomal recessive trait with mutation in acid β-glucosidase gene, GBA Clinical Issues Primarily involves liver,…
Tyrosinemia Grace E. Kim, MD Key Facts Etiology/Pathogenesis Mutations in fumarylacetoacetate hydrolase gene on 15q23-q25 Fumarylacetoacetate hydroxylase deficiency Clinical Issues Elevated plasma and urine succinylacetone Many patients have renal tubular…
Gilbert Disease Joseph Misdraji, MD Key Facts Terminology Inherited unconjugated hyperbilirubinemia due to mutation of promoter of UGT1A1 gene Etiology/Pathogenesis Decreased transcription of UGT1A1 gene results in decreased conjugation of…
Dubin-Johnson Syndrome Joseph Misdraji, MD Key Facts Etiology/Pathogenesis Mutations in CMOAT/MRP2/ABCC2 gene causes impaired biliary transport of conjugated bilirubin Clinical Issues Chronic or intermittent jaundice Isolated conjugated hyperbilirubinemia Onset usually…
Caroli Disease Joseph Misdraji, MD Key Facts Terminology Congenital segmental dilatation of intrahepatic bile ducts Caroli syndrome when associated with congenital hepatic fibrosis Clinical Issues Characterized by cholangitis, hepatolithiasis, abscess,…
Fibrous Obliteration Scott R. Owens, MD Key Facts Terminology Fibrosing process → loss of normal mucosal and lymphoid structures, may occlude appendiceal lumen Etiology/Pathogenesis Many associated with neural proliferations Clinical…
Cryptosporidium Laura Webb Lamps, MD Key Facts Etiology/Pathogenesis Cryptosporidium parvum causes diarrhea in healthy as well as immunocompromised children Transmitted by person-to-person contact or ingestion of contaminated food/water Clinical Issues…
