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Article Abstract
Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified. In such cases, insulin can be replaced by sulfonylurea with a successful metabolic control, as an example of how molecular diagnosis may influence the clinical management of the disorder.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614638 | PMC |
| http://dx.doi.org/10.1002/ccr3.328 | DOI Listing |
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Introduction: Genetic analysis is essential for diagnosing, treating, and predicting complications in neonatal diabetes mellitus (NDM) but is unavailable in some regions. Sulfonylureas are effective for NDM caused by KCNJ11 or ABCC8 mutations, which are among the most common genetic causes, therefore they are often given before genetic testing. Unfortunately, in certain ethnicities, this mutation rarely occurs.
View Article and Find Full Text PDFNeonatal diabetes: 20-year experience from a tertiary care pediatric diabetes clinic in north India.
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Background: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder, typically diagnosed within the first six months of life. While NDM is well-recognized globally, data from India regarding its clinical characteristics, treatment strategies, and long-term outcomes are scarce.
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J Clin Invest
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Understanding the genetic causes of diseases affecting pancreatic β cells and neurons can give insights into pathways essential for both cell types. Microcephaly, epilepsy and diabetes syndrome (MEDS) is a congenital disorder with two known aetiological genes, IER3IP1 and YIPF5. Both genes encode proteins involved in endoplasmic reticulum (ER) to Golgi trafficking.
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