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. 2017 Mar 16:2017:16-0133.
doi: 10.1530/EDM-16-0133. eCollection 2017.

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

María Clemente  1 , Alejandro Vargas  1 , Gema Ariceta  1 , Rosa Martínez  2 , Ariadna Campos  1 , Diego Yeste  1
Affiliations

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

María Clemente et al. Endocrinol Diabetes Metab Case Rep. .

Abstract

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.

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Figures

Figure 1
Figure 1
Growth chart over first 3 years of life.
Figure 2
Figure 2
Wrist and knee X-rays at 16 months of age.
See this image and copyright information in PMC

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