Clinical Diabetes and Endocrinology 2020
Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú.
কেবল নিবন্ধিত ব্যবহারকারীরা নিবন্ধগুলি অনুবাদ করতে পারবেন
প্রবেশ করুন - নিবন্ধন করুন
লিঙ্কটি ক্লিপবোর্ডে সংরক্ষিত হয়েছে
কীওয়ার্ডস
বিমূর্ত
Case presentation
We 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.Conclusions
This 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.