Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes
Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes
复制标题
伴有 ATP7B 基因新型复合杂合子突变的威尔逊病，表现为严重糖尿病
DOI：
10.2337/dc19-2033
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发表时间：
2020-06-01
期刊：
影响因子：
16.2
通讯作者：
Jin，Si
中科院分区：
文献类型：
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作者：
Li，Juyi;Jiang，Yanli;Jin，Si
目的探讨肝豆状核变性（WD）患者ATP7B基因突变与糖尿病的关系。研究设计与方法采用Sanger测序法鉴定ATP7B的21个外显子和外显子-内含子边界。结果发现两个新的复合杂合突变（c.525 dupA/ Val176Serfs*28和c.2930）ATP7B中检测到C>T/ p.Thr977Met)。d-青霉胺（D-PCA）治疗后，该患者血清转氨酶和铜蓝蛋白水平恢复正常，HbA1c水平下降。然而，当患者因皮肤发痒而停止使用D-PCA时，血清空腹血糖水平升高。服用二巯基琥珀酸胶囊后，患者记忆力有所恢复，同时血糖控制胰岛素用量减少5个单位。结论：这是首例由WD引起糖尿病的报道。
OBJECTIVE To determine the relationship between ATP7B mutations and diabetes in Wilson disease (WD). RESEARCH DESIGN AND METHODS A total of 21 exons and exon-intron boundaries of ATP7B 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 ATP7B. After d-penicillamine (D-PCA) therapy, serum aminotransferase and ceruloplasmin levels in this patient were normalized and levels of HbA1c 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.