Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India

Jain, V and Satapathy, A and Yadav, J and Sharma, R and Radha, V and Mohan, V and De Franco, E and Ellard, S (2017) Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India. INDIAN PEDIATRICS, 54 . p. 467.

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Abstract

OBJECTIVE: To study the genetic mutations and clinical profile in children with neonatal diabetes mellitus. METHODS: Genetic evaluation, clinical management and follow-up of infants with neonatal diabetes. RESULTS: Eleven infants were studied of which eight had permanent neonatal diabetes. Median age at presentation was 8 weeks and mean (SD) birth weight was 2.4 (0.5) kg. Pathogenic genetic mutations were identified in 7 (63.6%) children; 3 infants with mutations in KCNJ11 gene and 1 in ABCC8 were switched to oral sulfonylureas; 2 infants had mutations in INS and 1 in ZFP57. CONCLUSION: Neonatal diabetes mellitus is a heterogeneous disorder. Identification of genetic cause guides clinical management.

Item Type:Article
Official URL/DOI:https://www.indianpediatrics.net/june2017/467.pdf
Uncontrolled Keywords:Neonatal Diabetes
Subjects:Diabetology > Neuro Diabetology
Diabetes
Divisions:Department of Cell and Molecular Biology
Department of Diabetology
ID Code:1048
Deposited By:surendar radha
Deposited On:06 Sep 2017 11:02
Last Modified:06 Sep 2017 11:02

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