Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Pediatr Nephrol. 2022 Nov;37(11):2793-2798. doi: 10.1007/s00467-022-05678-z. Epub 2022 Jul 22.
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.
先天性肾和尿路畸形构成了先天性结构畸形的一个谱系，通常被称为 CAKUT。CAKUT 这一术语是 20 年前提出的，自那时以来已在文献中广泛使用。Woolf 教授在他的“起诉理由”中呼吁放弃这个术语。在这里，我主张继续将 CAKUT 用作这些相关先天性肾脏和尿路异常的总称。我解释了为什么 CAKUT 这个术语准确而有效地定义了这组具有产前起源的相关结构障碍，以及为什么鉴于 CAKUT 表型的共同病因学证据以及在遗传咨询中对 CAKUT 表型进行分组的重要性，继续对这些障碍进行分组是有意义的。
