2018, Number 1
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Rev Med MD 2018; 9.10 (1)
Monogenic neonatal diabetes
Gálvez-López AG, Villalobos-Lizardi JC, Aguila-Cano R, Ramírez-Ruíz M
Language: Spanish
References: 15
Page: 29-34
PDF size: 558.21 Kb.
ABSTRACT
Neonatal diabetes (ND) is a rare condition that is part of the monogenic diabetes resulting from one or more defects in a
single gene. They represent about 1-4% of all the cases of diabetes in pediatrics. All patients diagnosed with diabetes
within the first 6 months of life should have a molecular genetic study to define the subtype. In patient diagnosed
between 6 and 12 months of age, the genetic study is limited only to patients who do not have pancreatic islets
antibodies, because at this age most patients have type 1 diabetes. The importance of having a molecular diagnosis is
that this study provides information about which patients have a mutation in the potassium channel which can be
treated with high doses of sulfonylureas and which patients will present transient diabetes mellitus, this will help us
guide the treatment and prognosis of these patients. The following is a revision of the most important aspects of the
classification, pathophysiology, diagnosis and treatment of neonatal diabetes with emphasis on the importance of
realizing genetic study on these patients
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