Maturity-onset diabetes of the young type 9 or latent autoimmune diabetes in adults: A case report and review of literature.

BACKGROUND

Maturity-onset diabetes of the young (MODY) is a monogenic genetic disease often clinically misdiagnosed as type 1 or type 2 diabetes. MODY type 9 (MODY9) is a rare subtype caused by mutations in the gene. Currently, there are limited reports on -MODY, and its clinical characteristics and treatments are still unclear. In this report, we described a Chinese patient with high autoimmune antibodies, hyperglycemia and a site mutation in the gene.

CASE SUMMARY

A 42-year-old obese woman suffered diabetes ketoacidosis after consuming substantial amounts of beverages. She had never had diabetes before, and no one in her family had it. However, her autoantibody tested positive, and she managed her blood glucose within the normal range for 6 mo through lifestyle inter-ventions. Later, her blood glucose gradually increased. Next-generation sequencing and Sanger sequencing were performed on her family. The results revealed that she and her mother had a heterozygous mutation in the gene (c.314G>A, p.R105H), but her daughter did not. The patient is currently taking liraglutide (1.8 mg/d), and her blood glucose levels are under control. Previous cases were retrieved from PubMed to investigate the relationship between gene mutations and diabetes.

CONCLUSION

We reported the first case of a gene heterozygous mutation site (c.314G>A, p.R105H), which does not appear pathogenic to MODY9 but may facilitate the progression of latent autoimmune diabetes in adults.