Recent Advances in Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT)

A special issue of Pediatric Reports (ISSN 2036-7503).

Deadline for manuscript submissions: 30 June 2025 | Viewed by 9047

Special Issue Editors

Pediatric Nephrology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, 1000 Skopje, North Macedonia
Interests: nephrology; genetics; urinary tract infection; glomerulonephritis
Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Medical Univeristy of Lodz, 93-338 Łódź, Poland
Interests: pediatric nephrology; congenital malformations of urinary tract; prenatal diagnosis; enuresis; chronic kidney disease
Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione, 90127 Palermo, Italy
Interests: clinical nephrology; renal disease; nephrology urinary; infections; nephrotic syndrome; pediatric nephrology
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Special Issue Information

Dear Colleagues,

Congenital anomalies of the kidneys and urinary tract (CAKUT) are common malformations and may produce variable kidney damage, which, in some cases, leads to end-stage renal disease (ESRD). CAKUT constitute a frequent cause of birth defects (approximately three to six per 1000 live births). CAKUT may occur either as an isolated condition or as part of a syndromic disorder. CAKUT account for 20%–30% of congenital malformations and produce about 40% of cases of ESRD within the first three decades of life. Monogenic mutations are responsible of CAKUT in 10–15 % of cases; new genetic studies, including whole-exome sequencing, provide an etiologic diagnosis for many patients. Hereditary cystic kidney diseases comprise a complex group of genetic disorders including autosomal recessive polycystic kidney disease, neph-ronophthisis, Bardet–Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy; progress in the molecular understanding of hereditary cystic kidney diseases has been made in recent years. Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure in adults, but it is well known that the disease course begins in childhood; however, we ignore how to manage and approach children diagnosed with or at risk of ADPKD. Vesicoureteral reflux (VUR) is defined as the retrograde movement of urine from the bladder into the ureter(s); several studies published in the past ten years have questioned the traditional diagnostic and therapeutic recommendations of VUR. Children may present with a solitary functioning kidney (SFK) as a consequence of a congenital non-functioning kidney, or after nephrectomy, SFK may lead to renal injury that may end in end-stage renal disease (ESRD). According to the hyperfiltration hypothesis, an SFK may lead to glomerular damage with hypertension, albuminuria, and progression towards end-stage renal disease, but other factors may play a role.

Prof. Dr. Velibor Tasic
Prof. Dr. Marcin Tkaczyk
Dr. Silvio Maringhini
Guest Editors

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Keywords

  • genetics of CAKUT
  • prenatal diagnosis and fetal surgery in CAKUT
  • single kidney—long-term consequences for children and adolescents
  • ADPKD in childhood and adolescence
  • vesicoureteral reflux (VUR) and kidney disease
  • progression of renal disease in CAKUT

Published Papers (3 papers)

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Research

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5 pages, 219 KiB  
Article
Evaluation of Pediatric Patients with a Diagnosis of Ureterocele
by Özgür Özdemir Şimşek, Sibel Tiryaki, Gökçen Erfidan, Cemaliye Başaran, Seçil Arslansoyu Çamlar, Fatma Mutlubaş, Belde Kasap Demir and Demet Alaygut
Pediatr. Rep. 2022, 14(4), 533-537; https://doi.org/10.3390/pediatric14040062 - 07 Dec 2022
Cited by 1 | Viewed by 1440
Abstract
Aim: The presence and clinical importance of vesicoureteric reflux in patients with a double collecting system are being questioned. Therefore, the role of voiding cystourethrography in the management of patients with ureterocele is unclear. This study aimed to evaluate patients with a ureterocele [...] Read more.
Aim: The presence and clinical importance of vesicoureteric reflux in patients with a double collecting system are being questioned. Therefore, the role of voiding cystourethrography in the management of patients with ureterocele is unclear. This study aimed to evaluate patients with a ureterocele in terms of urinary tract infection (UTI) and vesicoureteral reflux (VUR). Material Methods: The cases who were admitted to the Pediatric Nephrology Clinic of Health Sciences University Tepecik Training and Research Hospital between 2012 and 2022 and were diagnosed with ureterocele were evaluated retrospectively. Demographic, clinical, and laboratory data were obtained from file records. Results: All patients diagnosed with ureterocele and voiding cystourethrography (VCUG) were evaluated. A total of 24 (female 13 (54.2%)) children were included. The reasons for admission were antenatal hydronephrosis in 13 (54.2%) patients, UTI in 9 (37.5%) patients, and incidentally diagnosed ureterocele in 2 (8.3%) patients. Urinary tract infection was observed in 20 patients at admission, recurrent UTI in 21 patients at follow-up, preoperative pyelonephritis in 12 patients. VUR was found in 11 patients, and severe VUR (≥stage 3) was found in 9 patients. Ten patients had ipsilateral hydronephrosis, and 14 patients had a double collecting system. The presence of VUR was found to be associated with female gender, UTI at admission, and recurrent UTI at follow-up (p < 0.05). However, there was no difference between groups with or without VUR in terms of ipsilateral hydronephrosis, scar formation, and the need for surgery (p > 0.05). Conclusions: We could not demonstrate any criteria to select patients to receive VCUG; on the other hand, VUR did not cause more kidney damage. Our study supports the need for more scientific data to determine management in patients with ureterocele. Full article
5 pages, 197 KiB  
Article
Associated Anomalies and Complications of Multicystic Dysplastic Kidney
by Matjaž Kopač and Robert Kordič
Pediatr. Rep. 2022, 14(3), 375-379; https://doi.org/10.3390/pediatric14030044 - 01 Sep 2022
Cited by 3 | Viewed by 1955
Abstract
Background: To assess multicystic dysplastic kidneys (MCDK) in children, their complications and associated congenital genitourinary anomalies. Methods: Children with unilateral MCDK, evaluated between 2012 and 2020, were analyzed. In this retrospective study, data were obtained from electronic and paper health care records. Results: [...] Read more.
Background: To assess multicystic dysplastic kidneys (MCDK) in children, their complications and associated congenital genitourinary anomalies. Methods: Children with unilateral MCDK, evaluated between 2012 and 2020, were analyzed. In this retrospective study, data were obtained from electronic and paper health care records. Results: There were 80 children included. Follow-up time was 8.0 +/− 5.2 years (mean +/− standard deviation). None of them had hypertension. In total, 43.8% of the children had associated congenital genitourinary anomalies, most commonly cryptorchidism and vesicoureteral reflux (VUR), and 6.3% of these children had chromosomopathy. All of them had normal kidney function except one child with dysplasia of the contralateral kidney. Urinalysis was normal in 90% of children. Extrarenal malformations occurred in 22.5% of them. We observed spontaneous involution of MCDK in 38.8% of children in the observed period. Nephrectomy was performed in 12.5% of children, at an average age of 2.0 years. Conclusions: Children with a unilateral MCDK have a very good prognosis if the contralateral kidney is normal. Associated congenital genitourinary anomalies are common. Cryptorchidism was found to be the most common associated anomaly among boys, which is unique for this study. Most of these children do not suffer from hypertension, kidney dysfunction or other complications. Full article

Review

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11 pages, 593 KiB  
Review
CAKUT: A Pediatric and Evolutionary Perspective on the Leading Cause of CKD in Childhood
by Robert L. Chevalier
Pediatr. Rep. 2023, 15(1), 143-153; https://doi.org/10.3390/pediatric15010012 - 10 Feb 2023
Cited by 1 | Viewed by 4298
Abstract
The global prevalence of chronic kidney disease (CKD) is increasing rapidly, due to increasing environmental stressors through the life cycle. Congenital anomalies of kidney and urinary tract (CAKUT) account for most CKD in children, with a spectrum that can lead to kidney failure [...] Read more.
The global prevalence of chronic kidney disease (CKD) is increasing rapidly, due to increasing environmental stressors through the life cycle. Congenital anomalies of kidney and urinary tract (CAKUT) account for most CKD in children, with a spectrum that can lead to kidney failure from early postnatal to late adult life. A stressed fetal environment can impair nephrogenesis, now recognized as a significant risk factor for the development of adult CKD. Congenital urinary tract obstruction is the leading cause of CKD due to CAKUT and can itself impair nephrogenesis as well as contribute to progressive nephron injury. Early diagnosis by ultrasonography in fetal life by an obstetrician/perinatologist can provide important information for guiding prognosis and future management. This review focuses on the critical role played by the pediatrician in providing timely evaluation and management of the patient from the moment of birth to the transfer to adult care. In addition to genetic factors, vulnerability of the kidney to CKD is a consequence of evolved modulation of nephron number in response to maternal signaling as well as to susceptibility of the nephron to hypoxic and oxidative injury. Future advances in the management of CAKUT will depend on improved biomarkers and imaging techniques. Full article
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