ABCC8-associated with maturity-onset diabetes in a young woman: clinical features and genetic analysis

ABCC8-MODY is caused by variants in the ATP-binding cassette transporter subfamily C member 8 (ABCC8) gene, which encodes sulfonylurea receptor 1 (SUR1), a subunit of the ATP-sensitive potassium channel (K-ATP) found in β-cell membranes. ABCC8 is responsible for the secretion of insulin, which controls blood sugar levels. We report on a 35-year-old female patient with diabetes regarding a likely pathogenic variant NM_001287174.3: c.970G>A, p. V324M (rs1328072266) in the ABCC8 gene. Based on the genetic test results, the patient was diagnosed with MODY12.

Conclusions. A personalized approach to diagnosis and treatment is especially important in identifying the “non-classical” course of diabetes in young people. The presented case demonstrates the features of the clinical course and difficulties in treating a rare form of monogenic diabetes – ABCC8-MODY.

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