Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene

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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 out specific metabolic conditions ( l -3-hydroxyacyl-coenzyme A dehydrogenase deficiency) or tubular renal involvement. Hyperinsulinaemic hypoglycaemia due to the heterozygous mutation (p.Arg63Trp, c. 187C > T) in the HNF4A gene is associated with renal tubulopathy and liver involvement. Follow-up of patients diagnosed of HHI is mandatory to detect associated conditions.