ARC综合征。

ARC syndrome.

作者信息

Mutlu Mehmet, Aslan Yakup, Aktürk-Acar Filiz, Çakır Murat, Erduran Erol, Kalyoncu Mukaddes

机构信息

Divisions of Neonatology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.

Divisions of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.

出版信息

Turk J Pediatr. 2017;59(4):487-490. doi: 10.24953/turkjped.2017.04.019.

DOI:10.24953/turkjped.2017.04.019

PMID:29624233

Abstract

Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M. ARC syndrome. Turk J Pediatr 2017; 59: 487-490. Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity. Most of the mutations in ARC syndrome are associated with the vacuolar protein sorting 33B (VPS33B) gene on chromosome 15q26.1. Herein, we report a female newborn with ARC syndrome caused by homozygous mutations in VPS33B [IVS1-2A > C (c.97-2A > C)].

摘要

穆特卢·M、阿斯兰·Y、阿克图尔克-阿恰尔·F、恰基尔·M、埃尔杜兰·E、卡利昂库·M。关节弯曲-肾功能不全-胆汁淤积综合征（ARC综合征）。《土耳其儿科学杂志》2017年；59：487 - 490。关节弯曲-肾功能不全-胆汁淤积（ARC）综合征是一种常染色体隐性多系统疾病，其特征为关节弯曲、肾小管功能障碍以及γ-谷氨酰转肽酶活性低的新生儿胆汁淤积。ARC综合征中的大多数突变与15q26.1染色体上的空泡蛋白分选33B（VPS33B）基因相关。在此，我们报告一名因VPS33B基因纯合突变[IVS1 - 2A > C（c.97 - 2A > C）]导致的ARC综合征女新生儿。