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Challenges in diagnosis and treatment of KCNJ11-MODY

2024; Wiley; Volume: 2024; Issue: 4 Linguagem: Inglês

10.1530/edm-24-0048

2052-0573

J. Basto Gonçalves, Helena Urbano Ferreira, Sara Ribeiro, Diogo Fernandes da Rocha, Selma B. Souto, Jorge Pedro, Paula Freitas, Joana Queirós,

Diabetes and associated disorders

Summary Maturity-onset diabetes of the young (MODY) is a subtype of monogenic diabetes and a rare type of diabetes, which accounts for 1–5% of cases and is often underdiagnosed. The importance of its diagnosis lies in the potential implications that it can have on disease management and offspring. We report a de novo KCNJ11 -MODY case and the process of transition from insulin to sulfonylureas. A 24-year-old Caucasian woman was referred to the Endocrinology Department on account of newly diagnosed diabetes mellitus. Her past medical history was unremarkable; however, her family history was relevant, as three grandparents had diabetes. Blood tests showed elevated haemoglobin A1c (10.7%) and fasting glucose (278 mg/dL), prompting the initiation of insulin therapy. Further tests revealed a normal C-peptide level (2.75 ng/mL) and negative anti-glutamic acid decarboxylase and anti-insulin antibodies. The examination of past medical records revealed pre-diabetes since the age of 13. Genetic testing identified a heterozygous pathogenic variant p.(Glu227Lys) in the KCNJ11 gene. Excellent glycaemic control was achieved upon initiation of gliclazide, leading to the withdrawal of insulin treatment. KCNJ11 -MODY is an extremely uncommon subtype of MODY, with only a few reported cases worldwide. This case is important, as it supports the use of sulfonylureas as an effective treatment for KCNJ11 -MODY. Learning points De novo KCNJ11 variants challenge MODY calculators. Gliclazide is safe, is effective in the long term and improves quality of life. Precision medicine is essential in the management of diabetes.