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Revista mexicana de pediatría
versão impressa ISSN 0035-0052
Resumo
FERNANDEZ-RUIZ, Lorena; ARIZA-JIMENEZ, Ana Belén e CAMARA-MORANO, Carmen De la. Neonatal diabetes mellitus: two cases, different presentation. Rev. mex. pediatr. [online]. 2020, vol.87, n.6, pp.232-235. Epub 27-Jun-2022. ISSN 0035-0052. https://doi.org/10.35366/97686.
Neonatal diabetes mellitus (NMD) usually onset before six months of life, which can be permanent or transitory. Currently, more than 20 genetic causes are known that determine its phenotypic and treatment variability.
Presentation of two clinical cases:
The first case was a newborn with a diagnosis of transient DMN, in whom hyperglycemia was an accidental finding. A mutation was identified in one gene which encodes some subunities of the ATP-sensitive K channel (KATP). This patient had a good response to glibenclamide. The second newborn developed a transient NMD secondary to a 6q24 mutation, but this patient also presented aortic coarctation, urinary tract and brain malformations. The hyperglycemia was treated with insulin.
Conclusions:
These two cases illustrate the variability that can occur in DMN, both with different evolution and therapeutic management, as well as the need of molecular genetics for diagnosis and treatment.
Palavras-chave : Neonatal diabetes mellitus; monogenic diabetes; 6q24 mutation; KATP channel; insulin; sulfonylurea.
