[Genetic screening is essential in polycystic kidney disease: It is never too late!]

Abstract

In France, numerous patients suffered from chronic kidney disease on polycystic kidney disorder. If PKD1 and PKD2 inactivating mutations are the most prevalent, several other genetic polycystic kidney diseases are responsible for similar kidney features and may be associated with severe extrarenal phenotypes. Genetic analysis in front of a polycystic disorder is not systematic, but is essential to assess the genetic diagnosis, discuss the intensity of treatment (vaptan) and precise the prognostic and the transmission of the phenotype. We detailed the case of a patient with end stage renal disease due to a polycystic kidney disease. Genetic analysis at 70 year of age revealed an oral-facial-digital syndrome type 1. The diagnosis had an important impact in the familial history and to attach the extrarenal phenotype to the syndrome. Our case illustrates that, in front of a polycystic kidney disease (even in aged patients with end stage renal disease) genetic screening is essential, for the propositus and their family and to take care of the extrarenal manifestations.

Keywords: Genetic; Génétique; Oral-facial-digital syndrome; Polycystic kidney disease; Polykystose hépato-rénale; Syndrome oro-facio-digital.