A Case of Progressive Familial Intrahepatic Cholestasis 7 associated with USP53 Gene Mutation
نویسندگان
چکیده
Background and Aim: Even though there is growing utilization of whole exome or genome sequencing, some patients with cholestatic liver disease do not exhibit any known genetic causes. However, recent studies have identified Ubiquitin Specific Peptidase (USP53) as a potential candidate gene responsible for specific form progressive familial intrahepatic cholestasis (PFIC), PFIC 7. Case Report: We present the case 2-year-old boy who presented jaundice generalized itching. Laboratory investigations revealed abnormal function tests consistent obstructive patterns, imaging indicated hepatomegaly. Biopsy hepatocellular canalicular bile stasis portal inflammation, bridging fibrosis early nodule formation. Genetic testing homozygous frameshift mutation in USP53 gene. The patient underwent partial external biliary diversion has been on follow-up since last 17 years. was later 2021 novel Conclusion: It crucial to raise awareness about these newly types PFIC, associated mutations, their prevalence India, diagnosis management are vital.
منابع مشابه
Progressive Familial Intrahepatic Cholestasis - A Case Report
Introduction Progressive familial intrahepatic cholestasis (PFIC) represents a group of disorders which usually begin in the first months of life and progress to cirrhosis before the end of second decade. The disease occurs due to a defect in bile acid transport leading to cholestasis and resultant hepatocelluler injury1-3. Recent molecular and genetic studies have identified genes responsible ...
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Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and associated with mutations ...
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oo~~ssrvn familial intrahepatic cholestasis (PFIC), P originally known as Byler disease, was first described in an Amish kindred (1,2). It is an inherited disorder of childhood in which cholestasis of hepatocellular origin often presents in the neonatal period or the first year of life and leads to death from liver failure at ages ranging from infancy to adolescence. Cholangiograms show normal ...
متن کاملLocus heterogeneity in progressive familial intrahepatic cholestasis.
Progressive familial intrahepatic cholestasis (PFIC or Byler disease) is a rare autosomal recessive form of severe and fatal cholestatic liver disease. A locus for PFIC has recently been mapped to chromosome 18q21-q22 in the original Byler pedigree. This region harbours the locus for a related phenotype, benign recurrent intrahepatic cholestasis (BRIC), suggesting that these traits are allelic....
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ژورنال
عنوان ژورنال: Journal of clinical and experimental hepatology
سال: 2023
ISSN: ['0973-6883', '2213-3453']
DOI: https://doi.org/10.1016/j.jceh.2023.07.140