Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene
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Hyperinsulinaemic 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...
متن کاملHNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response
BACKGROUND Hepatocyte nuclear factor 4α (HNF4A) is a member of the nuclear receptor family of ligand-activated transcription factors. HNF4A mutations cause hyperinsulinaemic hypoglycaemia in early life and maturity-onset diabetes of the young. Regular screening of HNF4A mutation carriers using the oral glucose tolerance test has been recommended to diagnose diabetes mellitus at an early stage. ...
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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...
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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 کاملHyperinsulinaemic hypoglycaemia due to chlorpropamide-induced nesidioblastosis.
A 25 year old woman suffering from recurrent attacks of hypoglycaemia underwent a laparotomy for suspected insulinoma. No tumour was found, but histology showed islet cell hyperplasia and nesidioblastosis. Although these changes have been reported as a cause of hypoglycaemia in infants, they are only rarely the cause of hypoglycaemia in adults; in the present case they were found to be the resu...
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ژورنال
عنوان ژورنال: Endocrinology, Diabetes & Metabolism Case Reports
سال: 2017
ISSN: 2052-0573
DOI: 10.1530/edm-16-0133