title: [Genetic kidney diseases: new perspectives on diagnosis].
abstract: Suspected renal inherited disorders are regularly evaluated in nephrology consultations both in adults and children. A positive family history and/or a typical phenotype should lead to genetic investigations. A confirmatory diagnosis integrated in a multidisciplinary genetic counseling approach gives patient guidance for further pregnancy. It also allows physician to better stratify disease risk and indicates treatment in some cases. The time to diagnosis and costs have been dramatically reduced thanks to next generation sequencing in several cases of complex inherited nephrologic syndromes.
authors.forename: Yassine
authors.initials: Y
authors.lastname: Bouatou
authors.forename: Ariane
authors.initials: A
authors.lastname: Paoloni-Giacobino
authors.forename: Paloma
authors.initials: P
authors.lastname: Parvex
authors.forename: Sophie
authors.initials: S
authors.lastname: De Seigneux
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods / Q000639:trends; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods