Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.

Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, Ellard S, Gilliam LK; SEARCH for Diabetes in Youth Study Group.

Source

Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. roopakshankar@gmail.com

Abstract

BACKGROUND:

Neonatal diabetes mellitus (NDM) is defined as diabetes with onset before 6 months of age. Nearly half of individuals with NDM are affected by permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channel genes (KCNJ11, ABCC8) and the insulin gene (INS) are the most common causes of PNDM.

OBJECTIVE:

To estimate the prevalence of PNDM among SEARCH for Diabetes in Youth (SEARCH) study participants (2001-2008) and to identify the genetic mutations causing PNDM.

METHODS:

SEARCH is a multicenter population-based study of diabetes in youth <20 6="" abcc8="" age.="" age="" and="" before="" diabetes="" diagnosed="" for="" genes.="" genetic="" in="" ins="" invited="" kcnj11="" months="" mutations="" of="" p="" participants="" testing="" the="" were="" with="" yr="">

RESULTS:

Of the 15,829 SEARCH participants with diabetes, 39 were diagnosed before 6 months of age. Thirty-five of them had PNDM (0.22% of all diabetes cases in SEARCH), 3 had transient neonatal diabetes that had remitted by 18 months and 1 was unknown. The majority of them (66.7%) had a clinical diagnosis of type1 diabetes by their health care provider. Population prevalence of PNDM in youth <20 000.="" 1="" 252="" at="" causing="" estimated="" five="" genetic="" identified="" in="" ins="" kcnj11="" mutations="" p="" participants="" pndm="" seven="" testing="" three="" two="" underwent="" was="" were="" yr="">

CONCLUSIONS:

We report the first population-based frequency of PNDM in the US based on the frequency of PNDM in SEARCH. Patients with NDM are often misclassified as having type1 diabetes. Widespread education is essential to encourage appropriate genetic testing and treatment of NDM.
© 2012 John Wiley & Sons A/S.