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

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• 作者：Noha Musa ; Mona Hafez ; Mona Hassan…
• 关键词：Neonatal diabetes ; Molecular diagnosis ; Sulfonylurea ; Insulin
• 刊名：International Journal of Diabetes in Developing Countries
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：36
• 期：1
• 页码：81-88
• 全文大小：337 KB
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• 作者单位：Noha Musa (1)
  Mona Hafez (1)
  Mona Hassan (1)
  Fatma El-Mougy (2)
  Sahar Sharaf (2)
  Michael Polak (3)
  Helene Cave (4)
  Sherif Mofeed (2)
  
  1. Diabetes, Endocrine and Metabolism Pediatric Unit, Cairo University, Cairo, Egypt
  2. Department of Clinical and Chemical Pathology, Cairo University, Cairo, Egypt
  3. Hôpital Universitaire Necker Enfants Malades, INSERM U845, Paris, France
  4. Department of Genetics, Robert Debré Hospital, Paris, France
  
• 刊物主题：Medicine/Public Health, general; General Practice / Family Medicine; Health Administration; Diabetes;
• 出版者：Springer India
• ISSN：1998-3832

文摘

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.