Progressive familial intrahepatic cholestasis type 4: a case report

Progressive familial intrahepatic cholestasis type 4: a case report

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Abstract Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses DisplayPort to HDMI Type A from persistent cholestasis to cirrhosis and late childhood liver failure.Classically, progressive familial intrahepatic cholestasis is classified into three subtypes: 1, 2, and 3 and results from a defect in a biliary protein responsible for bile formation and circulation in the liver.In the last decade and with the increased use of genetic testing, more types have been known.Case presentation A 6-month-old Afrocentric boy presented with progressive jaundice and pruritus that started since the age of 2 months.

He was thoroughly investigated to be finally diagnosed as progressive familial intrahepatic cholestasis type 4.A low-fat diet, ursodeoxycholic acid, fat-soluble vitamins, and cholestyramine were started.He showed initial improvement then had refractory pruritus and impaired quality of life.He underwent surgical biliary diversion at the age of 1 year with marked improvement of manifestations.

Conclusion Owing to the increased technology of genetic testing, more clinical subtypes of progressive familial intrahepatic cholestasis were diagnosed other than the classical N/A three types.Surgical management using biliary diversion could be beneficial and delays or may even obviate the need for liver transplantation.