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5 p, 2.4 MB Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene / Clemente, Maria (Hospital Universitari Vall d'Hebron) ; Vargas, Alejandro (Hospital Universitari Vall d'Hebron) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Martínez, Rosa (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Campos-Martorell, Ariadna (Hospital Universitari Vall d'Hebron) ; Yeste Fernández, Diego (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
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.
2017 - 10.1530/EDM-16-0133
Endocrinology, Diabetes & Metabolism Case Reports, Vol. 2017 (march 2017)  
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