USP53 基因中的一种新的纯合突变是儿童良性复发性肝内胆汁淤积症的原因：一例报告。
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
机构信息
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Bilkent City Hospital, Ankara, Türkiye.
Department of Medical Genetics, Bilkent City Hospital, Ankara, Türkiye.
出版信息
Turk J Pediatr. 2023;65(6):1012-1017. doi: 10.24953/turkjped.2023.367.
BACKGROUND
Benign recurrent intrahepatic cholestasis (BRIC) is a rare cause of cholestasis with recurrent episodes of jaundice and pruritus without extrahepatic bile duct obstruction. A mutation in the USP53 gene is known to cause BRIC-like cholestasis with normal serum gamma-glutamyltransferase (GGT) levels.
CASE
We report a 16-year-old boy with recurrent episodes of cholestasis since 6 months of age with normal serum GGT levels. The liver biopsy showed ballooning degeneration of hepatocytes which is typical for BRIC, and intrahepatic and canalicular cholestasis with bilirubinostasis. We performed whole exome sequencing (WES) and identified a novel homozygous variant (NM_001371399.1:c.1558C > T) of the USP53 gene at exon 14 as the cause of BRIC.
CONCLUSION
This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.
背景
良性复发性肝内胆汁淤积症（BRIC）是一种罕见的胆汁淤积症病因，其特征为反复发作性黄疸和瘙痒，而无肝外胆管阻塞。USP53 基因突变已知可导致 BRIC 样胆汁淤积症，同时血清γ-谷氨酰转移酶（GGT）水平正常。
病例
我们报告了一例 16 岁男孩，自 6 个月大时起反复发作性胆汁淤积，血清 GGT 水平正常。肝活检显示肝细胞气球样变性，这是 BRIC 的典型表现，同时伴有肝内和胆管内胆汁淤积及胆红素淤积。我们进行了全外显子组测序（WES），发现 USP53 基因第 14 外显子的一个新型纯合变异（NM_001371399.1：c.1558C > T）是 BRIC 的病因。
结论
这是土耳其首例 USP53 疾病病例，该基因在第 14 外显子上发生了一个新的突变。这种 c.1558C > T 突变的新发现可为从事肝内胆汁淤积症领域的人们提供明确的数据。我们的病例提示，对于血清 GGT 水平正常的复发性肝内胆汁淤积症患者，必须考虑 USP53 疾病的可能性。
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