Diabetes care · 2020
Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Li Juyi, Jiang Yanli, Xu Teng, Zhang Yao, Xue Jiajia, Gao Xiao, Yang Xiaoyan, Wang Xiufang, Jia Xiong, Cheng Wenzhuo, Jin Si
Аннотация
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.
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.