A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation
نویسندگان
چکیده
منابع مشابه
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.
OBJECTIVE Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor (HNF)-4alpha are known to cause maturity-onset diabetes of the young (MODY), which is characterized by autosomal-dominant inheritance and impaired glucose-stimulated insulin secretion from pancreatic beta-cells. HNF-4alpha has a key role in regulating the multiple transcriptional factor networks in the islet. Rec...
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OBJECTIVE The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY). To date, mutation screening has been limited to patients with a family history consistent with MODY. In this study, we investigated the prevalence of HNF4A mutations in a large cohor...
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ژورنال
عنوان ژورنال: The Journal of Pediatric Research
سال: 2020
ISSN: 2147-9445,2587-2478
DOI: 10.4274/jpr.galenos.2019.36034