进行性家族性肝内胆汁淤积症
胆汁淤积
医学
复合杂合度
肝活检
无症状的
外显子组测序
肝移植
突变
胃肠病学
消胆胺
病理
外显子组
内科学
基因
活检
生物
遗传学
移植
胆固醇
作者
Mukul Vij,Srinivas Sankaranarayanan
标识
DOI:10.1177/10935266211051175
摘要
Whole-exome sequencing studies have recently identified novel genes implicated in normal- or low-GGT pediatric cholestasis including ubiquitin-specific peptidase 53 (USP53). We identified novel biallelic mutations in the USP53 gene in a 7-month-old infant with pruritus and progressive intrahepatic cholestasis. His liver biopsy showed portal and perivenular fibrosis with bland bilirubinostasis. His parents were asymptomatic heterozygous for the same mutation. He is currently on vitamin supplements and cholestyramine and his family has also been counseled for liver transplantation. Our report confirms that patients with biallelic mutation in USP53 develop cholestatic liver disease.
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