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首页> 外文期刊>Balkan journal of medical genetics: BJMG >The role of next generation sequencing in the differential diagnosis of carolia??s syndrome
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The role of next generation sequencing in the differential diagnosis of carolia??s syndrome

机译：下一代测序在卡罗拉氏综合征鉴别诊断中的作用

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We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included primary sclerosing cholangitis and Carolia??s disease (CD). To solve the diagnostic challenge, next generation sequencing (NGS) was performed to distinguish between the disorders possibly present in the patient. The diagnosis of CD became evident after two rare known pathogenic mutations were detected in the poly-ductin 1 (PKHD1) gene, c.370CT (p.Arg124Ter) and c.4870CT (p.Arg1624Trp). In this case, NGS was instrumental in solving the diagnostic challenge, allowing differentiation among the proposed genetic and non-genetic ethiologies.
机译：我们报道了一名41岁男子因慢性肾功能不全，慢性肝炎和复发性胆管炎接受保守治疗超过20年的病例。经过冗长而广泛的诊断，鉴别诊断包括原发性硬化性胆管炎和卡洛里亚病（CD）。为了解决诊断难题，进行了下一代测序（NGS）来区分患者中可能存在的疾病。在poly-ductin 1（PKHD1）基因中检测到两个罕见的致病突变，即c.370C> T（p.Arg124Ter）和c.4870C> T（p.Arg1624Trp）后，CD的诊断变得很明显。在这种情况下，NGS有助于解决诊断难题，从而可以区分提出的遗传病因和非遗传病因。

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