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Endocrine Abstracts (2017) 49 EP459 | DOI: 10.1530/endoabs.49.EP459

Hospital Universitario 12 de Octubre, Madrid, Spain.

Introduction: MODY 5 is a rare type of dominantly inherited diabetes mellitus. It is asociated with mutations of the hepatocyte nuclear factor-1beta (HNF-1beta) gene. They are mostly missense mutations that produce truncated proteins with a variable clinical spectrum that encompasses among others: kidney, genital and pancreatic abnormalities.

Case-report: A 35 years-old man without relevant medical history, presented with acute hypergycemia (541 mg/dl) and ketosis but wihout metabolic acidosis. He had had cardinal symptoms for a 2-week period before presentation. Further investigation revealed a diagnosis of early onset diabetes in his mother, three siblings and a niece who also had undergone nephrectomy due to polycystic kydney disease. Laboratory workout revealed acute renal injury (MDRD4 57.2 ml/min per 1.73 m2) and elevated liver enzymes with a cholestatic pattern (Gamma-GT 74U/l; Alkaline Phosphatase 154 U/l; Bilirrubin 1.7 mg/dl), both resolved before discharge. No other abnormalities were detected. Abdominal US was normal. During hospitalization, the patient progressively achived adecuate glucose and he was discharged with a basal-bolus insulin regimen, pending on the results of pancreatic autoimmunity, and the performance of a magnetic cholangioresonance. During follow-up the patient showed no evidence of islet-cell antibodies nor glutamic acid decarboxylase autoantibodies (Anti GAD65 0.46 IU/ml, Anti IA2 2.13 U/ml, anti insulin 0.51 U/ml), a C- peptide of 237 ng/ml and the magnetic cholangioresonance that revealed aplasia of the dorsal pancreas. The diagnosis of MODY 5 diabetes was made after a genetic study for detecting HNF-1beta gene mutations confirmed a missense mutation (M_000458.2:c.884G>A -p.Arg295His-) in the DNA-binding homeodomain. The insulin was progressively withdrawn and metformin was introduced.

Conclusion: MODY 5 encompasses a wide clinical spectrum. Analysis for mutations of HNF-1B is warranted in young patients with an AD pattern family history of diabetes particularly when pancreatic atrophy, kidney or genital abnormalities are present.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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