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CAKUT 一词已经过时:支持起诉。

The term CAKUT has outlived its usefulness: the case for the prosecution.

机构信息

Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK.

Royal Manchester Children's Hospital, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Manchester, UK.

出版信息

Pediatr Nephrol. 2022 Nov;37(11):2785-2791. doi: 10.1007/s00467-022-05576-4. Epub 2022 May 16.

DOI:10.1007/s00467-022-05576-4
PMID:35575937
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9489548/
Abstract

CAKUT stands for Congenital Anomalies of the Kidney and Urinary Tract, and the acronym first appeared in a review article published in 1998. Since then, CAKUT has become a familiar term encountered in the medical literature, especially in nephrology journals. I reason that the term CAKUT was conceived as not a simple description of various diseases, but more as shorthand for a bold conceptual package that linked the occurrence of diverse types of anatomical malformations with insights from genetic and developmental biology research. Moreover, the angiotensin II receptor type 2 was seen as a paradigmatic molecule in the pathobiology of CAKUT. I contend that the acronym, while appearing as an intellectually good idea at the time it was conceived, has outlived its usefulness. To reach these conclusions, I focus on the complex of research observations that led to the theory behind CAKUT, and then question whether these scientific foundations still stand firm. In addition, it is noted that not all clinicians have adopted the acronym, and I speculate why this is the case. I proceed to demonstrate that there is an incompatibility between the semantic meaning of CAKUT and the diseases for which the term was originally conceived. Instead, I suggest the acronym UTM, standing for Urinary Tract Malformation, is a simpler and less ambiguous one to use. Finally, I contend that the continued use of the acronym is a regressive step for the disciplines of nephrology and urology, taking us back two centuries when all kidney diseases were simply called Bright's disease.

摘要

CAKUT 代表先天性肾脏和泌尿道异常,这个缩写最早出现在 1998 年发表的一篇评论文章中。从那时起,CAKUT 已成为医学文献中常见的术语,尤其是在肾脏病学杂志中。我认为,CAKUT 这个术语的提出不仅是对各种疾病的简单描述,更是一个大胆的概念包的简称,将不同类型的解剖畸形的发生与遗传和发育生物学研究的见解联系起来。此外,血管紧张素 II 受体 2 被视为 CAKUT 病理生物学中的典范分子。我认为,这个缩写虽然在构思时看起来是一个明智的想法,但已经过时了。为了得出这些结论,我专注于导致 CAKUT 理论背后的复杂研究观察,并质疑这些科学基础是否仍然牢固。此外,值得注意的是,并非所有临床医生都采用了这个缩写,我推测了为什么会这样。我接着证明,CAKUT 的语义含义与最初为其设想的疾病之间存在不兼容性。相反,我建议使用缩写 UTM,代表泌尿道畸形,这是一个更简单、更明确的术语。最后,我认为继续使用这个缩写是肾脏病学和泌尿外科学科的倒退,使我们回到两个世纪前,当时所有的肾脏疾病都简单地称为 Bright 病。

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Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.围产期巴特综合征、巴特综合征和吉特曼综合征的鉴别诊断。
Clin Kidney J. 2020 Oct 25;14(1):36-48. doi: 10.1093/ckj/sfaa172. eCollection 2021 Jan.
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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.产前诊断的肾回声增强的病因和结局。
Prenat Diagn. 2021 Mar;41(4):465-477. doi: 10.1002/pd.5883. Epub 2021 Jan 3.
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Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract.临床整合基因组诊断在肾脏和泌尿道先天畸形中的应用。
Clin J Am Soc Nephrol. 2020 Dec 31;16(1):128-137. doi: 10.2215/CJN.14661119. Epub 2020 Apr 20.
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HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.HNF1B突变与儿童期发生的吉特曼样肾小管病相关。
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