¿Por qué debemos preocuparnos de diagnosticar una diabetes monogénica?

Abstract

Monogenic forms represent a rare form (about 1%) of diabetes. Most cases are clinically mislabeled as type 1 or type 2 diabetes mellitus. Although they constitute a very heterogeneous group, their most common forms, such as neonatal diabetes or those called MODY (Maturity Onset Diabetes of the Young) share common characteristics as the absence of signs of autoimmunity or insulin resistance and the persistence of insulin secretion in over time. Reasons for the low rate of diagnosis may be a low awareness about the importance of diagnosis by health professionals and the need to perform tests in specific genetic units. In recent years there has been significant progress in the description of new forms and validation of clinical serum markers that facilitate their diagnosis.