Switching to Sulphonylureas in Children With iDEND Syndrome Caused by KCNJ11 Mutations Results in Improved Cerebellar Perfusion
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چکیده
منابع مشابه
Switching to Sulphonylureas in Children With iDEND Syndrome Caused by KCNJ11 Mutations Results in Improved Cerebellar Perfusion
OBJECTIVE Activating mutations in the KCNJ11 gene, encoding the Kir6.2 subunit of the KATP channel, result in permanent neonatal diabetes mellitus. They also may cause neurologic symptoms such as mental retardation and motor problems (iDEND syndrome) and epilepsy (DEND syndrome). Sulphonylurea (SU) treatment is reported to alleviate both the neurologic symptoms and diabetes in such cases. The s...
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Islet-specific antibody seroconversion in patients with long duration of permanent neonatal diabetes caused by mutations in the KCNJ11 gene.
H eterozygous activating mutations in the KCNJ11 gene are a common cause of permanent neonatal diabetes (PNDM) (1,2). In contrast to the autoimmune type 1 diabetes, patients with KCNJ11 mutations do not have serological markers of autoimmune -cell destruction at disease onset (1,3–5). In such patients, hyperglycemia does not result from insulin-secreting cell destruction but rather from impaire...
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ژورنال
عنوان ژورنال: Diabetes Care
سال: 2013
ISSN: 0149-5992,1935-5548
DOI: 10.2337/dc12-2166