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…
Acute Rheumatic Fever Monica P. Revelo, MD, PhD Dylan V. Miller, MD Key Facts Terminology Acute, immunologically mediated, multisystemic inflammatory disease occurring a few weeks after an episode of pharyngeal…
Herpes Simplex Virus Esophagitis Laura Webb Lamps, MD Key Facts Etiology/Pathogenesis Esophagus most common site of infection HSV almost exclusively infects squamous epithelium Infection most often seen in immunocompromised patients…
Mitochondrial Myopathies Monica P. Revelo, MD, PhD Dylan V. Miller, MD Key Facts Terminology Heterogeneous group of maternally inherited diseases resulting from dysfunction in mitochondrial DNA-encoded gene products Microscopic Pathology…
Glycogen Storage Disease Monica P. Revelo, MD, PhD Key Facts Terminology Inherited autosomal recessive disorders due to deficiency in lysosomal enzymes resulting in glycogen accumulation that causes cellular dysfunction and…
