Abstract

MOTA, Andreia Filipa; PARENTE, Susana  and  FREIXO, José Oliveira. MODY, the story of two siblings… the rare also happens!. Nascer e Crescer [online]. 2017, vol.26, n.3, pp.188-190. ISSN 0872-0754.

Maturity Onset Diabetes of the Young (MODY) defines   a subtype of non-insulin diabetes mellitus, without insulin resistance or autoimmune pancreatic β-cell dysfunction. Affects 1-4% of paediatric patients with diabetes. Usually there is a family history and it starts before 25 years-old. We present a clinical case of a previously healthy boy, who was diagnosed with type 1 diabetes mellitus due to fasting hyperglycaemia. After getting to know the MODY diagnosis in a not cohabitant sister from maternal lineage, we performed a genetic study which identified a heterozygote mutation in GCK gene. The high clinical suspicion, usually supported by suggestive familiar history, is the first step to make the correct diagnosis. However, this uncommon form of diabetes and the need    of expensive and long waiting complementary tests, delay identification, therapeutic and prognostic optimization, as well as genetic counselling.

Keywords : MODY; diabetes mellitus; mutation; GCK gene.

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