[Autosomal dominant polycystic kidney disease: light at the end of the tunnel?]

Catherine Melander; Dominique Joly; Bertrand Knebelmann

doi:10.1016/j.nephro.2010.02.004

[Autosomal dominant polycystic kidney disease: light at the end of the tunnel?]

Nephrol Ther. 2010 Jul;6(4):226-31. doi: 10.1016/j.nephro.2010.02.004. Epub 2010 Apr 28.

[Article in French]

Authors

Catherine Melander¹, Dominique Joly, Bertrand Knebelmann

Affiliation

¹ Service de néphrologie adultes, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.

PMID: 20430712
DOI: 10.1016/j.nephro.2010.02.004

Abstract

Autosomal dominant polycystic kidney disease, characterized by numerous cysts in both kidneys, is the most frequent, potentially lethal monogenic disorder. Its prevalence is evaluated between 1/400 and 1/1000 live births and it accounts for 7 to 8 % of end-stage renal disease in developed countries. As yet, the pathogenesis of this disease is not fully understood and there is no specific treatment available. Nevertheless, in the last few years, fundamental and clinical research has been highly efficient in these fields. The purpose of this review is to update the practical implications of this research in terms of clinical manifestations, diagnosis and treatment.

Publication types

English Abstract
Review

MeSH terms

Global Health
Humans
Kidney Failure, Chronic / etiology
Polycystic Kidney, Autosomal Dominant* / complications
Polycystic Kidney, Autosomal Dominant* / diagnosis
Polycystic Kidney, Autosomal Dominant* / epidemiology
Polycystic Kidney, Autosomal Dominant* / therapy
Prevalence