Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

BACKGROUNDPrevalence of maturity-onset diabetes of the young (MODY) is estimated between 1 and 2% of all diabetes cases. In Latin-America little information has been described about the frequency of the disease, perhaps due to limited access to genetic studies. CASE PRESENTATIONWe present the case o...

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Veröffentlicht in:Clinical diabetes and endocrinology 2020, Vol.6, p.3-3
Hauptverfasser: Lizarzaburu-Robles, Juan Carlos, Gomez-de-la-Torre, Juan Carlos, Castro-Mujica, María Del Carmen, Vento, Flor, Villanes, Sofia, Salsavilca, Elizabeth, Guerin, Chris
Format: Report
Sprache:eng
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Zusammenfassung:BACKGROUNDPrevalence of maturity-onset diabetes of the young (MODY) is estimated between 1 and 2% of all diabetes cases. In Latin-America little information has been described about the frequency of the disease, perhaps due to limited access to genetic studies. CASE PRESENTATIONWe present the case of a male patient with a history of two years of fatigue, mild hyperglycemia and intermittent polyuria, accompanied by a recent history of weight loss. He was diagnosed initially as type 2 diabetes, but in the follow-up as a patient with type 1 diabetes. He required relatively low doses of insulin and was evaluated in the endocrinology service at a hospital in Lima. The results of glucose, insulin and C-peptide in the oral glucose tolerance test (OGTT) performed were not consistent with a type 1 diabetes. Moreover, the age of the patient and the clinical characteristics did not strongly suggest a diagnosis of type 2 diabetes either. These clinical features had prompted us to carry out the genetic study. The genetic test performed with a genetic MODY panel through a massive sequencing. Heterozygous pathogenic for a variant in GCK gene was found (c.629 T > C, p.Met210Thr.). His parents were negative for this variant after performed the genetic test. CONCLUSIONSThis is the first case of MODY for a pathogenic variant in the GCK gene reported in Perú. The genetic evaluation of a clinical suspicion of MODY is important to confirm the diagnosis and establish an adequate treatment in patients.
ISSN:2055-8260
2055-8260
DOI:10.1186/s40842-019-0091-x