Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
A Mendelian inheritance underlies a nonnegligible proportion of hereditary kidney diseases, suggesting that the encoded proteins are essential for maintenance of the renal function. The identification of genes involved in congenital anomalies of the kidney and in familial forms of nephrotic syndrome significantly increased our understanding of the renal development and kidney filtration barrier physiology. This review will focus on the classical phenotype and clinical heterogeneity observed in the monogenic forms of these disorders. In addition, the role of susceptibility genes in kidney diseases with a complex inheritance will also be discussed.
Inserm, U983, Hôpital Necker-Enfants Malades, Paris, France.
Geneviève
G
Benoit
Eduardo
E
Machuca
Laurence
L
Heidet
Corinne
C
Antignac
D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007668:Kidney / Q000378:metabolism / Q000503:physiopathology; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology