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Autosomal dominant tubulointerstitial kidney disease.
Journal article

Autosomal dominant tubulointerstitial kidney disease.

  • Devuyst O Institute of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland. olivier.devuyst@uzh.ch.
  • Olinger E Institute of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland.
  • Weber S Division of Pediatric Nephrology and Transplantation, University Children's Hospital Marburg, Marburg, Germany.
  • Eckardt KU Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Kmoch S Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Rampoldi L Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Bleyer AJ Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
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  • 2019-09-07
Published in:
  • Nature reviews. Disease primers. - 2019
Biopsy
Genetic Diseases, Inborn
Humans
Kidney Failure, Chronic
Polycystic Kidney, Autosomal Dominant
English Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis in the absence of glomerular lesions, with inescapable progression to end-stage renal disease. These diseases have long been neglected and under-recognized, in part due to confusing and inconsistent terminology. The introduction of a gene-based, unifying terminology led to the identification of an increasing number of cases, with recent data suggesting that ADTKD is one of the more common monogenic kidney diseases after autosomal dominant polycystic kidney disease, accounting for ~5% of monogenic disorders causing chronic kidney disease. ADTKD is caused by mutations in at least five different genes, including UMOD, MUC1, REN, HNF1B and, more rarely, SEC61A1. These genes encode various proteins with renal and extra-renal functions. The mundane clinical characteristics and lack of appreciation of family history often result in a failure to diagnose ADTKD. This Primer highlights the different types of ADTKD and discusses the distinct genetic and clinical features as well as the underlying mechanisms.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/21923
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