Neonatal diabetes mellitus: a model for personalized medicine.
Neonatal diabetes mellitus occurs in approximately 1 out of every 100,000 live births. It can be either permanent or transient, and recent studies indicate that is likely to have an underlying genetic cause, particularly when diagnosed before 6 months of age. Permanent neonatal diabetes is most commonly due to activating mutations in either of the genes encoding the two subunits of the ATP-sensitive potassium channel. In most of these patients, switching from insulin to oral sulfonylurea therapy leads to improved metabolic control, as well as possible amelioration of occasional associated neurodevelopmental disabilities. It remains to be determined what is the most appropriate treatment of other causes. The diagnosis and treatment of neonatal diabetes, therefore, represents a model for personalized medicine.
Greeley
Siri Atma W
SA
Department of Pediatrics, Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, University of Chicago Pritzker School of Medicine, 5841 S Maryland Ave, MC 1027, Chicago, IL 60637, USA. sgreeley@peds.bsd.uchicago.edu
Tucker
Susan E
SE
Naylor
Rochelle N
RN
Bell
Graeme I
GI
Philipson
Louis H
LH
D000818:Animals; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D015316:Genetic Therapy; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007328:Insulin / Q000235:genetics; D057285:Precision Medicine / Q000379:methods*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use
D007004:Hypoglycemic Agents; D007328:Insulin; D013453:Sulfonylurea Compounds