基因中存在新型复合杂合突变的威尔逊病，表现为严重糖尿病。
Wilson Disease With Novel Compound Heterozygote Mutations in the Gene Presenting With Severe Diabetes.
机构信息
Department of Endocrinology, Institute of Geriatric Medicine, Liyuan Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Department of Pharmacy, The central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
出版信息
Diabetes Care. 2020 Jun;43(6):1363-1365. doi: 10.2337/dc19-2033. Epub 2020 Apr 14.
OBJECTIVE
To determine the relationship between mutations and diabetes in Wilson disease (WD).
RESEARCH DESIGN AND METHODS
A total of 21 exons and exon-intron boundaries of were identified by Sanger sequencing.
RESULTS
Two novel compound heterozygous mutations (c.525 dupA/ Val176Serfs*28 and c.2930 C>T/ p.Thr977Met) were detected in . After d-penicillamine (D-PCA) therapy, serum aminotransferase and ceruloplasmin levels in this patient were normalized and levels of HbA decreased. However, when the patient ceased to use D-PCA due to an itchy skin, serum levels of fasting blood glucose increased. Dimercaptosuccinic acid capsules were prescribed and memory recovered to some extent, which was accompanied by decreased insulin dosage for glucose control by 5 units.
CONCLUSIONS
This is the first report of diabetes caused by WD.
目的
确定 突变与肝豆状核变性（WD）糖尿病之间的关系。
研究设计与方法
通过 Sanger 测序鉴定了 的 21 个外显子和外显子-内含子边界。
结果
在 中发现了两种新的复合杂合突变（c.525 dupA/Val176Serfs*28 和 c.2930 C>T/p.Thr977Met）。在用二巯丁二酸（D-PCA）治疗后，该患者的血清转氨酶和血清铜蓝蛋白水平恢复正常，HbA 水平降低。然而，当患者因皮肤瘙痒停止使用 D-PCA 时，空腹血糖的血清水平升高。给予二巯丁二酸钙胶囊治疗后，记忆能力有所恢复，血糖控制所需胰岛素剂量减少了 5 个单位。
结论
这是首例 WD 引起的糖尿病报告。
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