Progressive Familial Intrahepatic Cholestasis
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چکیده
منابع مشابه
Small intestinal bacterial overgrowth in patients with progressive familial intrahepatic cholestasis.
BACKGROUND & AIMS To date, no studies concerning the presence of small intestinal bacterial overgrowth in patients with progressive familial intrahepatic cholestasis were published. Based upon characteristic of progressive familial intrahepatic cholestasis one can expect the coexistence of small intestinal bacterial overgrowth. The aim of the study was to assess the incidence of small intestina...
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INTRODUCTION Facilitation of biliary salts secretion represents the mainstay of treatment for progressive familial intrahepatic cholestasis (PFIC). The purpose of this study was to introduce a new approach for the treatment of progressive familial intrahepatic cholestasis (PFIC) to avoid ostoma. CASE PRESENTATION An 11-year-old girl with the diagnosis of PFIC underwent cholecystoappendicostom...
متن کاملA Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
BACKGROUND Progressive familial intrahepatic cholestasis has been only infrequently reported from India. CASE CHARACTERISTICS An Indian girl with progressive cholestatic liver disease beginning during infancy, normal gamma-glutamyl transpeptidase levels, parental consanguinity, positive family history and a fatal outcome. OBSERVATION A novel, homozygous mutation (c.[589_592inv;592_593insA])...
متن کاملProgressive familial intrahepatic cholestasis with normal GGT level appearing with lichenification and enlargement of hands and feet.
Progressive familial intrahepatic cholestasis is a serious disease of the liver, known as Byler disease, characterized by hepatocellular cholestasis. Severe pruritus and high serum bile acid concentrations are the most important diagnostic criteria of this autosomal recessive inherited disease. Here, we present a five-year-old boy with lichenification and enlargement of hands and feet as a sign...
متن کاملCurrent and future therapies for inherited cholestatic liver diseases
Familial intrahepatic cholestasis (FIC) comprises a group of rare cholestatic liver diseases associated with canalicular transport defects resulting predominantly from mutations in ATP8B1, ABCB11 and ABCB4. Phenotypes range from benign recurrent intrahepatic cholestasis (BRIC), associated with recurrent cholestatic attacks, to progressive FIC (PFIC). Patients often suffer from severe pruritus a...
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