ESPE Abstracts (2018) 89 P-P2-075

Type 5 Monogenic Diabetes: Reportof 7 Cases

Mogas Eduarda,b, Pacheco Rosaa, Yeste Diegoa,b, Campos Ariadnaa,b, Castaño Luisc & Clemente Maríaa,b


aChildren’s University Hospital Vall Hebron, Barcelona, Spain; bAutonomous University of Barcelona, Barcelona, Spain; cCruces University Hospital, Barakaldo, Spain


Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.

Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.

Patients and methods: The medical history of 7 children who were diagnosed with type 5 monogenic diabetes with genetic confirmation were reviewed.

Results: A mutation in HNF1beta gene was detected in all the patients (4 male and 2 female) between 14 and 18 years old. The genetic study in their first-degree relatives was normal in all the cases. Related to prenatal history, fetal growth restriction was presented in 6 of 7 patients, and 2 had sonographic renal abnormalities. However, the initial clinical manifestations were very different: 3 presented renal alterations, 2 transaminitis and the other 2 hyperglycemia; although while 1 patient only presented hyperglycemia, the other one had a non-ketosic debut diabetes. 6 patients had renal morphological abnormalitites at the beginning of the clinical manifestations, except one. However, renal cortical cysts were found in this last patient during disease progression. 3 patients developed chronic kidney disease, leading to a renal transplant in one of them. Neither woman presented mullerian abnormalities. During disease progression some other complications appeared: exocrine pancreatic insufficiency (1 patient), hyperuricemia (1 patient), hypomagnesemia (2 patients), hypertrygliceridemia (1 patient) o transaminitis (2 patients). 4 patients met diagnostic criteria for diabetes, thus they were treated with insulin. None of them presented positive antibodies for diabetes.

Conclusion: Phenotypic variability at the onset of Type 5 monogenic diabetes implies a diagnostic challenge. The study of HNF1beta gene should be considered in any patient with hyperglucemia, negative antibodies for diabetes, family history of type 2 diabetes and renal abnormalities. While progressive disfunction of beta cells is observed, not all the patients require insulin treatment at the beginning of the disease.

Article tools

My recent searches

No recent searches.

My recently viewed abstracts