A father and son with cholestasis and peripheral pulmonic stenosis: a distinct form of intrahepatic cholestasis.
We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allows us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.
D000328:Adult; D001706:Biopsy; D002675:Child, Preschool; D002779:Cholestasis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome