Vandana Jain1, Amit Satapathy, Jaivinder Yadav, Rajni Sharma, Venkatesan Radha, Viswanathan Mohan, Elisa De Franco, Sian Ellard. 1. Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, New Delhi, and *Madras Diabetes Research Foundation, Chennai, India; and #Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. Correspondence to: Prof. Vandana Jain, Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, Delhi-110 029, India. drvandanajain@gmail.com.
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.
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.