Clinico-morphological phenotype and genotype of multicystic kidney dysplasia in children

Abstract

At this review of literature presents data on the clinico-morphological phenotype and genotype of multicystic kidney dysplasia: unilateral (ORPHA:97363) and bilateral (ORPHA:97364). The published results of molecular genetic studies, which identified mutations of the genes PAX2, HNF1b, LHX1, CDC5L, USF2, UPK3A, NPHP3, TP63, SALL1, SOX9, CHD7, TFAP2A, responsible for the development of non-functioning unilateral or bilateral, isolate or syndromal multicystic kidney dysplasia, have been discussed. According to the literature, the features of the evolution of multicystic kidney, compensatory hypertrophy and the function of the contralateral kidney are presented.