Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.

IF 1.3 Q3 PEDIATRICS
Anna Degtyareva, Alina Dokshukina, Elena Filippova, Jekaterina Shubina, Ekaterina Tolmacheva, Igor Sadelov, Marina Albegova, Dmitriy Degtyarev
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引用次数: 0

Abstract

Background: Cholestatic liver disease is an important cause of morbidity and mortality and a leading indication for liver transplantation in children. These include diseases, such as biliary atresia, Alagille syndrome, progressive familial intrahepatic cholestasis, sclerosing cholangitis, bile acid synthesis defects, and many others.

Case presentation: NGS was used as a diagnostic tool to identify the genetic cause in the patient with cholestatic syndrome and to figure out and describe what mutation will be found. In the present observation, the cholestasis syndrome with low GGT activity and intense pruritus was the leading symptom of the patient. The examination also revealed other characteristic features of osteo- oto-hepato-enteric syndrome. The patient had facial features that mimicked Alagille syndrome, which complicated the diagnostic search. Moreover, the genetic test revealed two new pathogenic variants in the UNC45A gene.

Conclusion: This clinical observation demonstrates the importance of a multidisciplinary approach in the diagnosis of rare genetic diseases and using WES, which can accelerate the diagnosis compared with outdated gene panels.

患有黄疸和瘙痒症的婴儿中新描述的 UNC45A 基因突变。
背景:胆汁淤积性肝病是儿童发病和死亡的重要原因,也是肝移植的主要适应症。这些疾病包括胆道闭锁、Alagille 综合征、进行性家族性肝内胆汁淤积症、硬化性胆管炎、胆汁酸合成缺陷等:NGS 被用作一种诊断工具,以确定胆汁淤积综合征患者的遗传原因,并找出和描述将发现的突变。在本次观察中,胆汁淤积综合征伴低 GGT 活性和剧烈瘙痒是患者的主要症状。检查还发现了骨-卵-肝-肠综合征的其他特征。患者的面部特征与阿拉吉尔综合征相似,这使得诊断变得复杂。此外,基因检测还发现了 UNC45A 基因中的两个新的致病变体:这一临床观察结果表明,在诊断罕见遗传病时,采用多学科方法和使用 WES 非常重要,与过时的基因面板相比,WES 可以加快诊断速度。
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来源期刊
CiteScore
4.30
自引率
0.00%
发文量
66
期刊介绍: Current Pediatric Reviews publishes frontier reviews on all the latest advances in pediatric medicine. The journal’s aim is to publish the highest quality review articles dedicated to clinical research in the field. The journal is essential reading for all researchers and clinicians in pediatric medicine.
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