Genetics of congenital anomalies of the kidney and urinary tract: The current state of play

Valentina P. Capone, William Morello, Francesca Taroni, Giovanni Montini

Research output: Contribution to journalReview articlepeer-review


Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of malformation at birth and represent the cause of 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. The pathogenesis of CAKUT is based on the disturbance of normal nephrogenesis, secondary to environmental and genetic causes. Often CAKUT is the first clinical manifestation of a complex systemic disease, so an early molecular diagnosis can help the physician identify other subtle clinical manifestations, significantly affecting the management and prognosis of patients. The number of sporadic CAKUT cases explained by highly penetrant mutations in a single gene may have been overestimated over the years and a genetic diagnosis is missed in most cases, hence the importance of identifying new genetic approaches which can help unraveling the vast majority of unexplained CAKUT cases. The aim of our review is to clarify the current state of play and the future perspectives of the genetic bases of CAKUT.

Original languageEnglish
Article number796
JournalInternational Journal of Molecular Sciences
Issue number4
Publication statusPublished - Apr 11 2017


  • Congenital abnormalities of the kidney and urinary tract (CAKUT)
  • Copy number variants
  • Genetics
  • Next-generation sequencing
  • Renal hypodysplasia

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Computer Science Applications
  • Spectroscopy
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


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