A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome

The adult Fanconi syndrome.

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fanconi syndrome associated with valporic acid: a case report

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

BACKGROUND Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal dominant idiopathic Fanconi syndrome (a renal proximal tubulopathy) is described but no genetic cau...

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...

An AdultCase of Fanconi ' s Membranous Syndrome Associated with Nephropathy

An adult case of Fanconi's syndrome as$ociated with rnembranous nephropathy is described. Renal biopsy specimens revealed typical features of rnembranous nephropathy associated with seyere tubulointerstitial changes in light microscopy, electron microscopy and irnrnunofluorescent microscopy. The nephrotic syndTome duc to membranous nephTopathy was observed at the tini,e dc,finite diagnosis of F...