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Review
. 2022 Nov;37(11):2793-2798.
doi: 10.1007/s00467-022-05678-z. Epub 2022 Jul 22.

The term CAKUT has outlived its usefulness: the case for the defense

Nine V A M Knoers  1
Affiliations
Review

The term CAKUT has outlived its usefulness: the case for the defense

Nine V A M Knoers. Pediatr Nephrol. 2022 Nov.

Abstract

Congenital anomalies of the kidney and urinary tract form a spectrum of congenital structural disorders that are generally known under the term CAKUT. The term CAKUT was introduced 20 years ago and has been used extensively in literature since. Prof. Woolf has made a plea for abandoning this term in his "case for the prosecution." Here, I advocate for the continued use of CAKUT as an umbrella term for these related congenital kidney and urinary tract abnormalities. I explain why the term CAKUT accurately and usefully defines this group of related structural disorders with prenatal origin and why it makes sense to continue grouping these disorders given accumulating evidence for shared etiology of CAKUT phenotypes and the importance of grouping CAKUT phenotypes in genetic counseling.

Keywords: CAKUT; Chronic kidney disease; Genetic counseling; Reduced penetrance; Shared etiology; Variable expressivity.

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Conflict of interest statement

I am a collaborator in the ArtDECO consortium granted by the Dutch Kidney Foundation (project 20OC002).

Figures

Fig. 1
Fig. 1
Schematic example of intrafamilial variability in CAKUT, showing both variable phenotypes (different colors) and reduced penetrance (indicated by *)
See this image and copyright information in PMC

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