Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.
Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.
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中国人群 Wolfram 综合征的临床特征和 WFS1 中的新型移码突变
DOI：
10.3389/fendo.2018.00018
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发表时间：
2018
影响因子：
5.2
通讯作者：
Gu F
中科院分区：
文献类型：
--
作者：
Duan L;Li Q;Tong AL;Mao JF;Yu M;Yuan T;Chai XF;Gu F
目的Wolfram综合征（WS）是一种以耳糖尿病（DM）和视神经萎缩（OA）为特征的罕见的退行性遗传性疾病。我们的目标是描述迄今为止研究不足的中国患者的临床特征。方法回顾性分析2002年至2017年北京协和医院收治的WS患者。资料包括人口学资料、临床表现、检查结果、家族史和遗传分析。结果6例WS患者均符合15岁以前DM和OA同时存在或存在2个WFS 1突变的诊断标准。所有患者均为男性，中位年龄为14.5岁（范围10-19岁）。所有患者（100%）均存在血糖受损、OA和尿崩症，4例患者（66.7%）存在听力受损，4例患者（66.7%）存在泌尿系统异常，1例患者（16.7%）存在神经系统异常，1例患者（16.7%）存在内分泌紊乱。罕见的表现包括白内障、青光眼和隐性脊柱裂。糖尿病是胰岛素依赖性的，而不是酮症发作，谷氨酸脱羧酶抗体和胰岛细胞阴性。基因分析显示三名患者的WFS 1突变。在WFS 1基因外显子4中发现一个新的移码突变（p.Asp151Glufs*93）。结论WS是一种以耳部非自身免疫性DM和双侧OA为特征的广泛、多变的退行性疾病。当怀疑患有WS时，建议进行基因分析。
Objective Wolfram syndrome (WS) is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM) and optic atrophy (OA). We aim to characterize clinical features in Chinese patients who had been poorly studied until now. Methods We performed a retrospective review of patients with WS seen in the Peking Union Medical College Hospital from 2002 to 2017. Data including demographic data, clinical presentations, examination results, family history, and genetic analysis were described. Results Six patients with WS were identified, meeting the diagnostic criteria of the coincidence of DM and OA before 15 years old or the existence of two WFS1 mutations. All were male, with the median age of 14.5 years (range 10–19 years). Blood glucose impairment, OA, and diabetes insipidus were present in all (100%), hearing impairment in four (66.7%), urological abnormalities in four (66.7%), neurological abnormalities in one (16.7%), and endocrine disorder in one (16.7%). Rare presentation includes cataract, glaucoma, and spina bifida occulta. Diabetes was insulin-dependent and not ketosis onset, with antibody to glutamic acid decarboxylase and islet cell negative. Genetic analysis revealed mutations in WFS1 in three patients. A novel frameshift mutation (p.Asp151Glufs*93) was identified in exon 4 of WFS1. Conclusion Our series of WS patients indicated that WS is a degenerative disease with a wide and variable spectrum, characterized by ear non-autoimmune DM and bilateral OA. Genetic analysis is recommended when suspected of WS.
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影响因子：
10.5
作者：
Chen, Yi-Fan;Kao, Cheng-Heng;Tsai, Ting-Fen
通讯作者：
Tsai, Ting-Fen
影响因子：
3.7
作者：
Matsunaga K;Tanabe K;Inoue H;Okuya S;Ohta Y;Akiyama M;Taguchi A;Kora Y;Okayama N;Yamada Y;Wada Y;Amemiya S;Sugihara S;Nakao Y;Oka Y;Tanizawa Y
通讯作者：
Tanizawa Y
影响因子：
3.5
作者：
Ganie, M. A.;Laway, B. A.;Tufail, S.
通讯作者：
Tufail, S.
影响因子：
3.5
作者：
Zatyka M;Ricketts C;da Silva Xavier G;Minton J;Fenton S;Hofmann-Thiel S;Rutter GA;Barrett TG
通讯作者：
Barrett TG
影响因子：
30.8
作者：
Inoue, H;Tanizawa, Y;Permutt, MA
通讯作者：
Permutt, MA