A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes
نویسندگان
چکیده
منابع مشابه
Novel Mutation of Kcnj11 (phe35cys) Is Associated with Transient Neonatal Diabetes and Is Responsive to Sulfonylurea Therapy
SESSION
متن کاملTransient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome
Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic he...
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 کاملTransient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)
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.
متن کاملFirst case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment
In this report, we present the first known case of intermediate developmental delay, epilepsy and permanent neonatal diabetes (DEND) syndrome caused by a Q52R mutation in the KCNJ11 gene who was successfully switched (at age 1.3 years) to sulphonylurea monotherapy, namely glibenclamide. The most recent evaluation, after 2 years, showed a glycated hemoglobin level of 6.0% (42 mmol/mol). This mut...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2018
ISSN: 1308-5727,1308-5735
DOI: 10.4274/jcrpe.5166