MedGen

Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase (GGT; see 612346) is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes. Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture (Gonzales et al., 2017; Cockar et al., 2020). For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600). [from OMIM]

Diarrhea-2 with microvillus atrophy, with or without cholestasis (DIAR2) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease (MVID) with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described. For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). [from OMIM]