A Rare Case Report of Familial Neonatal Diabetes Mellitus
Journal Title: Pediatric Review: International Journal of Pediatric Research - Year 2018, Vol 5, Issue 6
Abstract
Neonatal diabetes mellitus (NDM) is a rare form of diabetes characterized by hyperglycemia occurring in the first few months of life with incidence 1 in 300,000 to 400,000 newborns. It is classified as transient and permanent type. Genetic etiology of this disease has been identified. Most of the TNDM cases are caused by the overexpression of chromosome 6q24, and the majority of PNDM cases are due to KATP channel mutations caused by heterozygous activating mutations in KCNJ11 and ABCC8. INS gene mutations can be inherited in both autosomal dominant and recessive pattern. Hereby we present a familial case of neonatal diabetes due to INS gene mutation.
Authors and Affiliations
Pradnya. P. Wali, Hemant Parakh, K. Bhaskar Reddy, Sandeep Kumar Jain, T Prashant Reddy
Keywords
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- EP ID EP376443
- DOI 10.17511/ijpr.2018.6.06
- Views 162
- Downloads 0
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