Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea
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منابع مشابه
Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea.
Permanent neonatal diabetes (PNDM) can result from activating heterozygous mutations in KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic ATP-sensitive potassium channels (KATP). Sulfonylureas promote KATP closure and stimulate insulin secretion, being an alternative therapy in PNDM, instead of insulin. Male, 20 years old, diagnosed with diabetes at 3 months of age. The genetic study i...
متن کاملSuccessful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation
Permanent neonatal diabetes mellitus refers to diabetes that occurs before the age of 6 months and persists through life. It is a rare disorder affecting one in 0.2-0.5 million live births. Mutations in the gene KCNJ11, encoding the subunit Kir6.2, and ABCC8, encoding SUR1 of the ATP-sensitive potassium (KATP) channel, are the most common causes of permanent neonatal diabetes mellitus. Sulfonyl...
متن کاملPermanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Permanent neonatal diabetes (PND) can be caused by mutations in the transcription factors insulin promoter factor (IPF)-1, eukaryotic translation initiation factor-2alpha kinase 3 (EIF2AK3), and forkhead box-P3 and in key components of insulin secretion: glucokinase (GCK) and the ATP-sensitive K(+) channel subunit Kir6.2. We sequenced the gene encoding Kir6.2 (KCNJ11) in 11 probands with GCK-ne...
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The most common monogenic cause of neonatal diabetes is mutation in KCNJ11, which encodes a potassium channel in pancreatic beta cells. Some mutations in this gene, including Q52R, have been described in association with neurological deficits, but never with hepatic involvement. We report the second case of neonatal diabetes in a patient with a KCNJ11/Q52R mutation. This patient's clinical cour...
متن کاملPDX1 mutation in permanent neonatal diabetes A novel hypomorphic PDX1 mutation responsible for Permanent Neonatal Diabetes with subclinical exocrine deficiency Running title: PDX1 mutation in permanent neonatal diabetes
Marc Nicolino*, Kathryn C. Claiborn*, Valérie Senée , Anne Boland , Doris A. Stoffers , Cécile Julier 4,5 1 Hôpital Femme-Mère-Enfant, Division of Pediatric Endocrinology, Lyon University, Lyon, France 2 INSERM U870, CIC, Lyon, France. Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism and the Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania Sc...
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ژورنال
عنوان ژورنال: Archives of Endocrinology and Metabolism
سال: 2015
ISSN: 2359-3997
DOI: 10.1590/2359-3997000000076