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REVIEW article

Front. Med.
Sec. Nephrology
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1384676
This article is part of the Research Topic Disparities in Nephrotic Syndrome Outcomes View all articles

Congenital anomalies of the kidney and urinary tract

Provisionally accepted
Anfal H. Mahmoud Anfal H. Mahmoud Iman M. Talaat Iman M. Talaat Abdelaziz Tlili Abdelaziz Tlili Rifat Hamoudi Rifat Hamoudi *
  • University of Sharjah, Sharjah, United Arab Emirates

The final, formatted version of the article will be published soon.

    Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) refer to a range of conditions that affect the kidney and urinary tract. These anomalies can be severe, such as kidney agenesis, or milder, such as vesicoureteral reflux. CAKUT affects over 1% of live births and accounts for 40-50% of cases of chronic kidney failure in children. The pathogenesis of CAKUT is caused by various environmental, genetic, and epigenetic factors that disrupt normal nephrogenesis.Environmental factors that can lead to CAKUT include maternal diabetes, obesity, malnutrition, alcohol consumption, or medications affecting kidneys development. Genetic factors can cause an imbalance in the metanephros and the ureteric bud interaction. Defects in specific genes such as PAX2, TBX18, NRIP1, REX, SIX2, BMP4, and chromosome 17 cause CAKUT. Over 50 genes have been identified as the root cause of this condition, with monogenetic variants causing up to 20% of all cases. CAKUTs can be diagnosed through fetal ultrasonography, but some anomalies may remain undetected. GWASs, Next Generation Sequencing for targeted and whole exome DNA sequencing may provide additional diagnostic methods. This review article highlights some the leading factors that cause CAKUT, which adversely affects kidney development and urinary tract function.

    Keywords: CAKUT, Kidney anomalies, Metanephros, Ureteric bud, Ultrasonography

    Received: 10 Feb 2024; Accepted: 19 Jun 2024.

    Copyright: © 2024 Mahmoud, Talaat, Tlili and Hamoudi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Rifat Hamoudi, University of Sharjah, Sharjah, 27272, United Arab Emirates

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