AI Article Synopsis
- Heterozygous mutations in the KCNJ11 gene are the primary cause of permanent neonatal diabetes mellitus (NDM), and oral sulfonylureas have been effective for treatment in many instances.
- An infant with NDM and DEND syndrome caused by a specific V59A mutation showed no improvement with sulfonylurea treatment for blood sugar control or neurological issues.
- This case highlights that most DEND syndrome patients are generally resistant to sulfonylurea therapy.
Article Abstract
Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (NDM), and successful glycemic control has been obtained in several cases with oral sulfonylureas (SU). We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene. Thus, our case reinforces that most cases with DEND syndrome are insensitive to SU.
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Source |
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| http://dx.doi.org/10.1515/jpem-2012-0236 | DOI Listing |
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