Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene
نویسندگان
چکیده
منابع مشابه
Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene
BACKGROUND Macrosomia is associated with considerable neonatal and maternal morbidity. Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in the offspring of pregnant women with diabetes and in congenital hyperinsulinaemia is mediated by increased foetal insulin secretion. We assessed the in utero and neonatal role of two key regulators of pancreatic insulin...
متن کاملPersistent Hyperinsulinaemic Hypoglycaemia and Maturity Onset Diabetes of the Young (MODY) due to Heterozygous HNF4A Mutations
Objective: Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor 4 alpha (HNF-4α) 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 ß-cells. HNF-4α has a key role in regulating the multiple transcriptional factor networks in the islet. Recen...
متن کاملHyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene
SUMMARY HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported. LEARNING POINTS Urine specimen study in cases of HHI with diazoxide response is necessary to rule o...
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ژورنال
عنوان ژورنال: PLoS Medicine
سال: 2007
ISSN: 1549-1676
DOI: 10.1371/journal.pmed.0040118