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Results for “VESICO-URETERAL REFLUX”

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PubMed2026

Vesicoureteral reflux and anorectal malformations.

BACKGROUND: Renal and urinary tract anomalies are frequently associated with anorectal malformations (ARMs) and may adversely affect long-term renal outcomes, if not detected early. However, reliable clinical predictors for significant urologic abnormalities across different ARM phenotypes remain poorly defined. OBJECTIVE: To determine the prevalence and grade distribution of vesicoureteric reflux (VUR) in neonates with ARMs, and to explore its association with renal and urinary tract anomalies, the complexity of the ARM phenotype, and other factors are associated with high-grade VUR. METHODS: In this retrospective cross-sectional study, medical records of 64 neonates diagnosed with ARMs and managed at a tertiary children's hospital between 2018 and 2025 were reviewed. All patients underwent renal and urinary tract ultrasonography. Voiding cystourethrography (VCUG) was performed for all neonates according to our institutional protocol, regardless of ultrasound findings or ARM phenotype. Demographic characteristics, ARM phenotype (less-complex vs. complex), urologic findings, urinary tract infection (UTI) history, and associated anomalies were analyzed. Multivariable logistic regression models were used to identify independent predictors of complex ARM phenotype and high-grade VUR. RESULTS: The cohort consisted of 64 neonates (75% male) with a mean gestational age of 37.36 ± 1.83 weeks and a mean birth weight of 2940 ± 601 g. Renal and urinary tract anomalies were common, with hydronephrosis observed in 48.4%, VUR of any grade in 39.1% and hydroureter in 35.9%,of patients. High-grade VUR was identified in 21.9% of patients, and a documented history of UTI was present in 18.8% of the entire cohort. In multivariable analyses, birth weight, presence of VUR, and UTI history were not independently associated with complex ARM phenotype. Additionally, no demographic or clinical variables reliably predicted high-grade VUR. The predictive performance of the regression model for high-grade VUR was limited (AUC = 0.60). CONCLUSION: Renal and urinary tract anomalies are highly prevalent among neonates with ARMs, with VUR representing a prominent finding. The lack of robust clinical predictors for complex ARM phenotype or high-grade VUR underscores the limitations of selective screening strategies and supports the role of comprehensive urologic evaluation in neonates with ARM, regardless of anatomic subtype.

Humans↗
PubMed2025

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.

PURPOSE: Congenital anomalies of the kidney and urinary tract (CAKUT) encompass heterogenous malformations arising from defective nephrogenesis. To date, approximately 50 monogenic genes are known to cause CAKUT if mutated. Recent studies show the impact of de novo variants in genetic disease etiology. Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families. METHODS: We performed trio-based exome sequencing in 209 families with CAKUT to detect novel candidate disease genes. RESULTS: Trio analysis yielded in the identification of CAKUT candidate genes in 96 of 209 trio families (45.93%). In 41 of 209 cases, we detected strong de novo variants in 45 potential novel CAKUT candidate genes (19.62%). We developed a prioritization approach that highlights a truncating de novo variant in SOX13 (HGNC:11192) as a promising cause for CAKUT. In addition, further allele carriers for the candidate gene CHD1L (HGNC:1916) were identified, thus supporting the role of CHD1L in the pathogenesis of CAKUT. CONCLUSION: We conclude that de novo variants in potential novel CAKUT candidate genes contribute to the disease etiology and present SOX13 as a potential novel cause for CAKUT.

Humans↗
PubMed1979

Operative versus non-operative management of patients with staghorn calculi and neurogenic bladder.

During the last 5 years 22 patients have been treated at our hospital for staghorn calculi and neurogenic bladder. In 17 patients an operation was done soon after discovery of the calculi, while 5 patients were followed non-operatively. The latter 5 patients had a rapid downhill course marked by sepsis and renal function deterioration and an operation was necessary in 4 of the 5 cases. Injudicious non-operative therapy only prolongs the relentless effects of staghorn calculi in patients with spinal cord pathology.

Adult↗
PubMed1975

Controlled trial of therapy in covert bacteriuria of childhood.

Sixty-three girls with covert bacteriuria were included in a controlled trial of therapy. Recurrent infection in the treated group was common and was not significantly different from the rate of persistent infection in the untreated control group. Two children in each group developed clinical pyelonephritis; the others have remained healthy and all of them have a normal rate of growth. 2 years after diagnosis three of the thirty-four children in the control group and one of twenty-six children in the treated group have radiological evidence of new scars of pyelonephritis. These changes were relatively minor and in both groups of children renal growth was similar to that in normal children. It is suggested that for most of these children therapy is not essential, and that when renal changes occur they are of little or no significance. Prescriptive screening for cobert bacteriuria of childhood cannot be recommended at present.

Ampicillin↗
PubMed1975

The justification for early radiological investigations of urinary-tract infection in children.

97 children, 67 girls aged 0-13 years and 30 boys aged 0-11 years, with apparent first urinary-tract infections were investigated radiologically. The intravenous pyelogram was abnormal in 15.5% of the girls and 33% of the boys and the micturating cystourethrogram was abnormal in 34% of the girls and 39% of the boys. When both examinations were combined the abnormality-rate rose to 41% in the two sexes. Accordingly, radiological investigation of the renal tract is recommended after the first proven urinary tract infection.

Adolescent↗
PubMed1978

Urinary infection after micturating cystography.

Out of 87 patients who underwent micturating cystourethrography (M.C.U.) 14 had infection at the time of the procedure, and infection later developed in 18 patients. The occurrence of post-M.C.U. infection was significantly influenced by whether the patient was on antibacterial treatment at the time of the procedure, but not by the sex of the patient, difficulty of catheterisation, or radiological abnormality. Hence, antibacterial prophylaxis should be given, and subsequent urine culture is mandatory.

Adolescent↗
PubMed1976

Conservative bladder treatment in myelodysplasia. Differentiation of patients by cystomanometry.

Urodynamic evaluation was performed in 75 patients with congenital neuropathic bladder. Concerning treatment the most important parameters were detrusor tone, detrusor activity and bladder outlet resistance. Based on these findings individual conservative therapy was applied. Reflux or dilatation of the upper urinary tract found in 26 children could be controlled by drugs or transurethral operations in 20, urinary diversion had to be done only 4 times. 26 children were selected for intensive treatment of incontinence; in about 50% satisfying urinary control was achieved. These results still need long-term observation. The main interest, however, was to postpone irreversible surgery and to gain time for possible better treatment in the future.

Adolescent↗
PubMed2026

Swimming Upstream to Understand Congenital Anomalies of the Kidney and Urinary Tract: Zebrafish Models for Developmental Biology, Disease Mechanisms, and Functional Interpretation of Genetic Variation.

Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of pediatric chronic kidney disease (CKD) and comprise a heterogeneous group of developmental disorders with a substantial genetic contribution. Advances in next-generation sequencing have facilitated the identification of numerous candidate genes and rare variants associated with CAKUT. However, establishing causality and defining the biological functions of implicated genes remain major challenges. Functional validation is therefore essential to bridge the gap between gene discovery and mechanistic understanding, enabling the interpretation of genetic variation within the context of kidney development and disease. The zebrafish (Danio rerio) has emerged as a powerful in vivo model for studying renal development and interrogating the function of CAKUT-associated genes. Its utility stems from a high degree of genetic and developmental conservation with humans, conserved nephrogenic pathways, optical transparency during embryogenesis, and the relative ease of genetic manipulation. In this review, we provide an overview of zebrafish kidney development within the broader context of vertebrate nephrogenesis, highlighting the key genetic programs governing intermediate mesoderm specification, nephron segmentation, and pronephric morphogenesis. We then systematically examine CAKUT-associated genes that have been modeled in zebrafish, focusing on studies that have linked genetic perturbations to renal development and structural phenotypes. Finally, we discuss the strengths and limitations of zebrafish models for functional genomics and variant interpretation and consider their emerging role in bridging genetic discovery with mechanistic insights into CAKUT pathogenesis.

Animals↗
PubMed1978

Experimental pyelonephritis in the monkey. VI. Infection of infants versus adults.

Pyelonephritis followed ureteral inoculation of bacteria in both infant and adult monkeys. Because of the frequency of reflux in infants this was done by bladder inoculation, although ureteral inoculation was necessary in adults. The longer duration of bacteriuria in infants may be attributable to a relative immunodeficiency.

Age Factors↗
PubMed1977

[Urologic symptoms in the abdominal muscle deficiency syndrome (author's transl)].

The abdominal muscle deficiency syndrome ("prune belly syndrome"(, a symptom triad of aplasia of the abdominal wall musculature, malformations of the urinary tract, and cryptorchism, is described from the urologist's point of view, citing nine cases. With modern diagnostic procedures the early detection of the correct diagnosis in the usually very young patients is possible. While the urologic symptomatology is due to the malformations in the urinary tract, the life expectancy depends mainly on the degree of renal function impairment. Combat of infection together with proper operative repairs are the treatments of choice to date. Instrumental procedures should be limited as much as possible. The survival changes following kidney transplantation appear promising.

Abdominal Muscles↗