伊朗3型糖原贮积病患者的独特临床和遗传特征
Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.
作者信息
Nazari Ferdos, Sinaei Farnaz, Nilipour Yalda, Petit François, Oveisgharan Shahram, Nassiri-Toosi Mohsen, Razzaghy-Azar Maryam, Mahmoudi Mahdi, Nafissi Shahriar
机构信息
Iranian Center of Neurological Research, Neuroscience Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Department of Pathology, Pediatric Pathology Research Center, Mofid Children Hospital, Shahid Beheshti Medical University, Tehran, Iran.
出版信息
J Clin Neuromuscul Dis. 2018 Jun;19(4):203-210. doi: 10.1097/CND.0000000000000212.
OBJECTIVES
Glycogen storage disease type 3 (GSD-III) is a rare inherited metabolic disorder caused by glycogen debranching enzyme deficiency. Various pathogenic mutations of the AGL gene lead to abnormal accumulation of glycogen in liver, skeletal, and cardiac muscles. Here, we report distinct clinical and genetic data of Iranian patients with GSD-III.
METHODS
Clinical and laboratory data of 5 patients with GSD-III were recorded. Genetic investigation was performed to identify the causative mutations.
RESULTS
Three patients had typical liver involvement in childhood and one was diagnosed 2 years after liver transplantation for cirrhosis of unknown etiology. Four patients had vacuolar myopathy with glycogen excess in muscle biopsy. All patients had novel homozygous mutations of the AGL gene namely c.378T>A, c.3295T>C, c.3777G>A, c.2002-2A>G, and c.1183C>T.
CONCLUSIONS
This is the first comprehensive report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene.
目的
Ⅲ型糖原贮积病（GSD-III）是一种由糖原脱支酶缺乏引起的罕见遗传性代谢紊乱疾病。AGL基因的各种致病突变导致糖原在肝脏、骨骼肌和心肌中异常蓄积。在此，我们报告伊朗GSD-III患者独特的临床和基因数据。
方法
记录5例GSD-III患者的临床和实验室数据。进行基因检测以确定致病突变。
结果
3例患者在儿童期有典型的肝脏受累表现，1例在因不明病因肝硬化接受肝移植2年后被诊断出该病。4例患者在肌肉活检中出现有糖原过多的空泡性肌病。所有患者均有AGL基因新的纯合突变，即c.378T>A、c.3295T>C、c.3777G>A、c.2002-2A>G和c.1183C>T。
结论
这是伊朗关于GSD-III患者的首份综合报告，其中包括2种不常见的临床表现以及AGL基因的5种新突变。
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