Monogenic renal diseases: a clinical introduction.
The clinical spectrum of monogenic renal diseases is wide ranging, from autosomal dominant polycystic kidney disease to very rare inherited disorders. The genes involved in most of these diseases have been identified. However some monogenic diseases are still not characterized clinically. The challenges of the future will be to understand phenotypic variability and the molecular mechanisms of disease, and to design pharmacological tools to stop or retard its progression. The post-gene era has begun and the field of research in monogenic disorders is wide open.
Grünfeld
Jean-Pierre
JP
Université Paris V-René Descartes, Service de Néphrologie, Hôpital Necker, Paris, France. jean-pierregrunfeld@nck.ap-hop-paris.fr
D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D018740:Genetic Heterogeneity; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D010641:Phenotype