Identification of low gamma-glutamyl transferase familial intrahepatic cholestasis - benign recurrent intrahepatic cholestasis in a 22-year-old woman: A case report and literature review
نویسندگان
چکیده
Introduction: Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder characterized by episodes of cholestatic jaundice that may last days to months. It can start at any age, but often in first decade life. The syndrome does not lead progressive liver dysfunction and cirrhosis. Between patients have no symptoms laboratory levels are within the norms. exact mechanism BRIC many other conditions poorly understood. Syndrome time was described 1959r., 2004 proposed following diagnostic criteria. report presents 22-year-old woman with diagnosis an accompanying severe pruritus (first episode BRIC).
 aim: This article describes clinical presentation, abnormalities, etiologic factors responsible for BRIC. We intend this case due rarity disease Poland.
 Clinical case: Described as course features Knowledge entity important issue early recognition might prevent performance expensive algorithm. tests whole picture had conclusive results. Moreover, despite negative test, authors were sure it BRIC.
 Conclusion: leading should be remembered characteristic BRIC, very low level GGT accompanied itching. has great importance (by shortening procedure algorithm), allowing quick diagnosis.
منابع مشابه
Progressive Familial Intrahepatic Cholestasis - A Case Report
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ژورنال
عنوان ژورنال: Fides et Ratio
سال: 2022
ISSN: ['2082-7067']
DOI: https://doi.org/10.34766/fetr.v3i51.1099