Neonatal diabetes mellitus (NOM) may be defined as hyperglycemia diagnosed within the first 6 months of life, NOM can result from gene mutations such as KCNJ11, ABCC8, INS, GCK. The most common cause of neonatal diabetes mellitus is associated with activating mutations in the KCNJ11 gene and ABCC8 located on chromosome 11. the authors carry out this study to determine gene muta'tion of KCNJ11 and ABCC8 in patients with NOM and assess the results of oral sulfonylureas therapy replacing insulin injection. The patients population included 11 NOM patients with ABCC8 or KCNJ11 mutations who are treated at the National Hpspital of Pediatrics. This is a case series study, the symtoms were collected and investigated; ONA was extracted from lymphocyte and analysed for gene mutation by PCR or sequencing of KC,NJ 11, ABCC8. The results include of 6 patients with KCNJ11 mutation, 5 patients with ABCC8 mutations. 9/11 patients successfully transferred to sulfonylureas and did not need insulin injections, 1 patient is in the switching progress and 1 patient with novel mutation is treatment with insulin. Therefore, the authors found that it is important to analyse gene mutations for selecting a suitable therapy for patients with NOM.
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