Basicmedical Key

NASH Matthew M. Yeh, MD, PhD Key Facts Etiology/Pathogenesis Associated conditions Diabetes Obesity Hyperlipidemia Dyslipidemia Drugs Malabsorption, malnutrition Clinical Issues Patients often have metabolic syndrome Transaminases usually elevated Microscopic Pathology…

Venoocclusive Disease Sanjay Kakar, MD Key Facts Etiology/Pathogenesis Stem cell transplantation and high-dose chemotherapy Sinusoidal endothelial cell injury is important initial event Clinical Issues Hyperbilirubinemia, weight gain, and painful hepatomegaly…

Drug-Related Acute Hepatitis Sanjay Kakar, MD Key Facts Etiology/Pathogenesis 2 chief mechanisms: Intrinsic and idiosyncratic Idiosyncratic is the most common in children Herbal and botanical drugs are important but often…

Glycogen Storage Diseases 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…

Paucity of Intrahepatic Bile Ducts (Nonsyndromic) Joseph Misdraji, MD Key Facts Terminology Heterogeneous group of disorders that cause bile duct paucity in patients without congenital abnormalities indicative of Alagille syndrome…

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…