Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes
G Benoit, E Machuca, L Heidet… - Annals of the New York …, 2010 - Wiley Online Library
G Benoit, E Machuca, L Heidet, C Antignac
Annals of the New York Academy of Sciences, 2010•Wiley Online LibraryA 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 …
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 …
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.
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