[Genetic kidney diseases: new perspectives on diagnosis]

Rev Med Suisse. 2016 Feb 24;12(507):387-8, 390-2.
[Article in French]

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.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adult
  • Child
  • Female
  • Genetic Counseling
  • Genetic Testing* / methods
  • Genetic Testing* / trends
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Kidney Diseases / diagnosis*
  • Kidney Diseases / epidemiology
  • Kidney Diseases / genetics*
  • Pregnancy
  • Prenatal Diagnosis / methods