[Hereditary kidney disease in adolescents and adults]

Ned Tijdschr Geneeskd. 2018 May 25:162:D2427.
[Article in Dutch]

Abstract

In recent years, there has been a great deal of interest in the literature on genetic kidney disease. It has become clear that chronic kidney disease (CKD) may be caused by single gene mutations, not only in paediatric patients but also in adult patients. Studies indicate that pathogenic mutations can be found in approximately 10% of patients with CKD, and figures are still rising. Syndrome characteristics do not have to be present. In this article, we would like to draw attention on this aspect of a common health problem. We present three cases of genetic kidney disease from our daily practice, showing the value of a multidisciplinary approach for reaching a correct diagnosis. Additionally, we would like to emphasise the value of taking a familial history in every patient with renal disease.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Genetic Testing
  • Humans
  • Medical History Taking
  • Mutation
  • Renal Insufficiency, Chronic / diagnosis*
  • Renal Insufficiency, Chronic / genetics