Precision medicine in KCNJ11 permanent neonatal diabetes
نویسندگان
چکیده
منابع مشابه
Genetics and neonatal diabetes: towards precision medicine
934 www.thelancet.com Vol 386 September 5, 2015 Diabetes is a lifelong chronic disease. During the past 100 years, its diagnosis has been based on measurements of raised blood glucose concentrations. In the 1960s, diabetes was subclassifi ed based on age at onset and need for insulin treatment (ie, juvenile or maturity onset; insulin or non-insulinrequiring diabetes). Because diabetes was belie...
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 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 کاملPermanent neonatal diabetes mellitus
BACKGROUND Neonatal diabetes is a rare cause of hyperglycemia, affecting 1: 500,000 births, with persistent hyperglycemia occurring in the first months of life lasting more than 2 weeks and requiring insulin. This condition in infants less than 6 months of age is considered as permanent neonatal diabetes mellitus. CASE REPORT A rare case of permanent neonatal diabetes mellitus presented with ...
متن کاملPsychiatric morbidity in children with KCNJ11 neonatal diabetes
AIMS Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic KATP channel, cause neonatal diabetes. KCNJ11 is also expressed in the brain, and ~ 20% of those affected have neurological features, which may include features suggestive of psychiatric disorder. No previous studies have systematically characterized the psychiatric morbidity in people with KCNJ11 neonatal dia...
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ژورنال
عنوان ژورنال: The Lancet Diabetes & Endocrinology
سال: 2018
ISSN: 2213-8587
DOI: 10.1016/s2213-8587(18)30138-4