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.
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.
|Uncontrolled Keywords:||Neonatal Diabetes|
|Subjects:||Diabetology > Neuro Diabetology|
|Divisions:||Department of Cell and Molecular Biology|
Department of Diabetology
|Deposited By:||surendar radha|
|Deposited On:||06 Sep 2017 11:02|
|Last Modified:||06 Sep 2017 11:02|
Repository Staff Only: item control page