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Anales del Sistema Sanitario de Navarra

versión impresa ISSN 1137-6627

Resumen

JUNQUERA, S.; GONI, M. J.  y  LAFITA, J.. Maturity-onset diabetes of the young type 5: a case report. Anales Sis San Navarra [online]. 2011, vol.34, n.3, pp.527-531. ISSN 1137-6627.  http://dx.doi.org/10.4321/S1137-66272011000300024.

MODY-5 diabetes is an infrequent type of monogenic diabetes, caused by mutation in the gene of the nuclear hepatic transcription factor 1-beta (HNF-1β). This mutation can be of a momentary type or it might correspond to big deletions, and, in its turn, it can appear due to spontaneous de novo mutation or it can be transmitted by hereditary with an autosomal dominant character. It is associated with a high risk of microvascular complications that appear early in affected people, as well as with characteristic renal alterations of the cyst type, and anomalies of the genital tract, which are present even before birth. That is why it is justified to carry out detection tests for HNF-1β mutations in non-obese diabetics, above all when there are associated renal or genital alterations, without consideration of family antecedents.

Palabras clave : MODY-5 diabetes.

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