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.
![[img]](/style/images/fileicons/application_pdf.png)
| PDF 31Kb |
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 |
Repository Staff Only: item control page
