TY - JOUR
T1 - Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene
AU - Clemente, María
AU - Vargas, Alejandro
AU - Ariceta Iraola, Gema
AU - Martínez, Rosa
AU - Campos, Ariadna
AU - Yeste Fernández, Diego
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Congenital Hyperinsulinism
KW - Diabetes Mellitus
KW - Newborn Infant
KW - Pregnancy in Diabetics
KW - Hepatocyte Nuclear Factor 4
KW - Genetics
KW - Case Reports
U2 - 10.1530/EDM-16-0133
DO - 10.1530/EDM-16-0133
M3 - Article
C2 - 28458902
SN - 2052-0573
VL - 2017
JO - Endocrinology, Diabetes and Metabolism Case Reports
JF - Endocrinology, Diabetes and Metabolism Case Reports
ER -
