Sepsis in the Liver
Sepsis in the Liver Laura Webb Lamps, MD Key Facts Terminology Spectrum of hepatic injury in patients with sepsis or bacteremia Etiology/Pathogenesis Usually caused by sepsis from underlying bacterial pneumonia…
Hepatitis C
Hepatitis C Kusa Terianm, MD Key Facts Terminology Hepatitis, usually chronic, secondary to hepatitis C virus infection Clinical Issues Liver biopsy is performed to grade and stage disease and exclude…
Progressive Familial Intrahepatic Cholestasis
Progressive Familial Intrahepatic Cholestasis Joseph Misdraji, MD Key Facts Etiology/Pathogenesis PFIC1 (FIC1 disease) is due to mutations of ATP8B1 (FIC1 gene) PFIC2 (BSEP disease) is due to mutations of ABCB11…
Hereditary Hemochromatosis
Hereditary Hemochromatosis Matthew M. Yeh, MD, PhD Key Facts Etiology/Pathogenesis Mutation in HFE gene (C282Y and H63D) or non-HFE gene Clinical Issues Classic triad: Cirrhosis, diabetes, skin pigmentation Microscopic Pathology…
Porphyrin Metabolism Disorders
Porphyrin Metabolism Disorders Joseph Misdraji, MD Key Facts Terminology Heterogeneous group of inherited and acquired disorders of heme biosynthesis PCT and EP are associated with hepatic pathology Etiology/Pathogenesis Sporadic PCT…
Dubin-Johnson Syndrome
Dubin-Johnson Syndrome Joseph Misdraji, MD Key Facts Etiology/Pathogenesis Mutations in cMOAT/MRP2 gene causes impaired biliary transport of conjugated bilirubin Clinical Issues Chronic or intermittent jaundice, precipitated by pregnancy or oral…
Neonatal Hemochromatosis
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…
Glycogen Storage Disease
Glycogen Storage Disease Grace E. Kim, MD Key Facts Etiology/Pathogenesis Inborn error of carbohydrate metabolism caused by gene mutations in proteins involved in glycogen synthesis, degradation, or regulation Results in…
Tyrosinemia
Tyrosinemia Grace E. Kim, MD Key Facts Terminology Synonym: Tyrosinemia, type I Etiology/Pathogenesis Mutations in fumarylacetoacetate hydrolase gene on 15q23-q25 Fumarylacetoacetate hydroxylase deficiency Clinical Issues Elevated plasma and urine succinylacetone…
