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International Journal of Diabetes in Developing Countries

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01.03.2016 | Original Article

Clinical, molecular, and therapeutic aspects of NDM in ten cases with diabetes in 1st 6 months of life

verfasst von: Noha Musa, Mona Hafez, Mona Hassan, Fatma El-Mougy, Sahar Sharaf, Michael Polak, Helene Cave, Sherif Mofeed

Erschienen in: International Journal of Diabetes in Developing Countries | Ausgabe 1/2016

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Abstract

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia occurring within the first 6 months of life; it may be permanent or transient. Diagnosis of NDM is vital for prognosis, genetic counseling, and treatment. The aim of this study was to study clinical, biochemical, molecular, and therapeutic aspects of diabetes presenting in the first 6 months of life. Ten cases with NDM were studied regarding perinatal and family history, clinical features and biochemical tests on admission and follow-up, HLA typing and molecular studies, and mode of therapy. Molecular studies for the common mutations associated with NDM (KCNJ11, INS, ABCC8 and methylation defects) were done using PCR amplification and gene sequencing. Ten cases developed diabetes in the first 6 months of life (three in the first 8 weeks, seven between 8 and 24 weeks). All presented with ketoacidosis, one had developmental delay with convulsions. Molecular studies revealed methylation defect in two cases, KCNJ11 in three cases, INS mutations in two cases, and no detectable defect in three cases. Insulin was stopped on follow-up in three cases (TND), successfully substituted with sulfonylurea (SU) in three cases, and continued in four cases (PND). Molecular genetic testing is essential in cases with NDM for guiding mode of therapy as SU receptor defects can be successfully treated with oral SU instead of insulin injections. SU was more effective in achieving diabetes control in cases with KCNJ11 mutations.

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Titel: Clinical, molecular, and therapeutic aspects of NDM in ten cases with diabetes in 1st 6 months of life
verfasst von: Noha Musa
Mona Hafez
Mona Hassan
Fatma El-Mougy
Sahar Sharaf
Michael Polak
Helene Cave
Sherif Mofeed
Publikationsdatum: 01.03.2016
Verlag: Springer India
Erschienen in: International Journal of Diabetes in Developing Countries / Ausgabe 1/2016
Print ISSN: 0973-3930
Elektronische ISSN: 1998-3832
DOI: https://doi.org/10.1007/s13410-015-0431-z

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

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Clinical, molecular, and therapeutic aspects of NDM in ten cases with diabetes in 1st 6 months of life

Abstract

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

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