Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
نویسندگان
چکیده
منابع مشابه
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
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...
متن کاملPersistent 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...
متن کاملSafety and tolerability of diazoxide in Japanese patients with hyperinsulinemic hypoglycemia.
Diazoxide is a non-diuretic benzothiadiazine derivative, one of a group of substances introduced into clinical practice in the 1950s for the treatment of hypertension. Fajans reported the use of diazoxide for the treatment of insulinoma in 1979. Although patients with hyperinsulinemic hypoglycemia worldwide have been treated with diazoxide for more than 30 years, there are no recent reports abo...
متن کاملMolecular genetics and phenotype of 26 Vietnamese patients with congenital hyperinsulinism
Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic b-cells and is a major cause of hypoglycemic brain injury and mental retardation. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion, seven of which have been identified (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1 and HNF4A). Severe forms of congenital HH are c...
متن کاملAssessment of Nifedipine Therapy in Hyperinsulinemic Hypoglycemia due to Mutations in the ABCC8 Gene.
Context Previous case reports have documented the effectiveness of l-type calcium channel blockers (such as nifedipine and verapamil) for treating different forms of hyperinsulinemic hypoglycemia (HH). Objective To systematically assess the glycemic response to nifedipine therapy in 11 patients with HH due to mutations in the ABCC8 gene. Design Dose escalation of nifedipine therapy. Setti...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2010
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-09-0861