Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes

Diabetes Care. 2020 Jun;43(6):1363-1365. doi: 10.2337/dc19-2033. Epub 2020 Apr 14.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chelating Agents / therapeutic use
  • Chelation Therapy
  • China
  • Copper / metabolism
  • Copper / toxicity
  • Copper-Transporting ATPases / genetics*
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / pathology
  • Exons
  • Hepatolenticular Degeneration / drug therapy
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / pathology
  • Heterozygote
  • Humans
  • Insulin / administration & dosage
  • Male
  • Memory Disorders / etiology
  • Memory Disorders / genetics
  • Metformin / administration & dosage
  • Middle Aged
  • Mutation, Missense*
  • Severity of Illness Index

Substances

  • Chelating Agents
  • Insulin
  • Copper
  • Metformin
  • ATP7B protein, human
  • Copper-Transporting ATPases