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Maturity Onset Diabetes of the Young type 5 (MODY5) chez l’enfant et l’adolescent : analyse de 2 familles et revue de la littérature

Abstract : MODY5 (Maturity-onset diabetes of the young type 5 ) is a rare form of diabetes due to mutations in the gene encoding Hepatocyte Nuclear Factor-1beta (HNF-1β), a widely distributed transcription factor which plays a critical role in the embryonic development of the kidney, the pancreas, the liver and genitals. The pathophysiology is poorly known but could be linked with pancreatic dysgenesis. Diabetes is diagnosed before 25 yr in approximately 20% of the patients with HNF-1β mutation, but it is rarely in the foreground and of early onset. We report two families with HNF-1β gene mutations, one with a de novo 1 Mbase deletion of the17q12 region, and a second one with a c.884G>A substitution mutation in exon 4. Diabetes had a very early onset in one member of each family, at two years in one case and 11 months with ketoacidosis in the other case. These two children were treated with subcutaneous insulin. In the second family, the father began his diabetes at the age of 26 yrs and her sister, now 15 yrs old does not have diabetes. Pancreatic and renal abnormalities were associated with diabetes in all subjects. A review of the literature centered on subjects with HNF-1β mutations and diabetes diagnosed before 25 yr recorded 68 patients, only five of which (9%) had diabetes before 10 yr of age, 28 (41%) between 10 and 18 yr and 26 (38%) between 18 and 25 yr. MODY 5 is very rare before 10 yr, but has to be thought of in childhood diabetes without auto-antibodies, with a family history of diabetes and particularly when renal or pancreatic abnormalities are present.
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Submitted on : Wednesday, November 19, 2014 - 10:37:59 AM
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  • HAL Id : dumas-01084392, version 1

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Adeline Boucheron. Maturity Onset Diabetes of the Young type 5 (MODY5) chez l’enfant et l’adolescent : analyse de 2 familles et revue de la littérature. Médecine humaine et pathologie. 2013. ⟨dumas-01084392⟩

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