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Review
. 2024 Jul 15:11:1384676.
doi: 10.3389/fmed.2024.1384676. eCollection 2024.

Congenital anomalies of the kidney and urinary tract

Anfal Hussain Mahmoud  1 , Iman M Talaat  1   2   3 , Abdelaziz Tlili  4 , Rifat Hamoudi  1   2   5   6
Affiliations
Review

Congenital anomalies of the kidney and urinary tract

Anfal Hussain Mahmoud et al. Front Med (Lausanne). .

Abstract

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; ultrasonography; ureteric bud.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Figures

Figure 1
Figure 1
Timeline of kidney development in humans (5, 10).
Figure 2
Figure 2
Anomalies of the kidneys are illustrated in (A–E), anomalies of the ureter are shown in (F–I), and anomalies of the lower urinary tract are depicted in (J–L). CAKUT phenotypic spectrum includes kidney anomalies, ureter, and lower Urinary tract. (A) Renal agenesis, (B) Hypoplasia, (C) Dysplasia, (D) Ectopic kidney, (E) Horseshoe kidney, (F) UPJO; ureteropelvic junction obstruction, (G) Primary megaureter, (H) Duplex collecting system, (I) VUR; vesicoureteral reflux, (J) Bladder exstrophy, (K) Bladder agenesis, (L) Posterior urethral valves.
See this image and copyright information in PMC

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