In June, DiabetesCare (IF: 15.6), the top international journal in the field of diabetes, officially published the research results of Professor Jin Si's team in the Department of Endocrinology, Liyuan Hospital (No.3 Affiliated Hospital of Tongji Medical College of HUST. “Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes”. Professor Jin Si's doctoral student Li Juyi is the first author, and Professor Jin Si is the corresponding author. This is the first international report on diabetes which can be caused by hepatolenticular degeneration.
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.
· Received October 13, 2019.
· Accepted March 22, 2020.
· © 2020 by the American Diabetes Association