Anuria in a solitary kidney with Candida bezoars managed conservatively.

UNLABELLED: Renal involvement is regularly encountered in neonates with invasive candidiasis, especially when risk factors like congenital malformations of the renal tract or poor bladder emptying and preterm birth are present. However, complete obstruction of the renal collecting system by fungal balls is rare. Although conservative management has been advocated for partial obstruction, complete obstruction is considered an indication for surgical drainage. We report a patient with anuria and Candida albicans bezoars in a solitary kidney, suggesting post-renal acute kidney injury. The patient was treated with systemic fluconazole and peritoneal dialysis for 4 days. The fungus balls disappeared and renal function recovered. CONCLUSION: Systemic antifungal therapy leads to clearance of obstructing fungus balls, and nephrostomy should be reserved for anuria due to bilateral complete obstruction with severe hydronephrosis. In these cases, temporary dialysis is a potential alternative.

The BladderScan BVI 6200® is not accurate enough for use in a bladder retraining program.

OBJECTIVE: Bladder scans are used extensively in adult urology to estimate urinary volumes. For children, smaller devices have been developed. Scarce literature shows conflicting results regarding the accuracy of measurements in children. The BladderScan(®) BVI 6200 has been developed to overcome some of the inaccuracies. We tested this device to see whether it can replace conventional ultrasound in a bladder retraining program. PATIENTS AND METHODS: 84 children (mean age 7.8 years) were included. Measurements with the BVI 6200 were compared to measurements with a graduated cylinder or with conventional ultrasound before and after micturition. All volumes were expressed in milliliters. The measured volumes were compared to each other in a Bland-Altman analysis. RESULTS: Mean (bias) of the different measurements fell within 10% difference of measurements. The spread of the different measurements around the mean was however very large, with a broad spread of over- and under-estimations of different measured volumes. CONCLUSION: The BVI 6200 is not reliable enough to replace conventional ultrasound for measurements of bladder volumes. It is not advisable to use it in a bladder retraining program.

Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

Vesico-ureteral reflux (VUR) is the retrograde passage of urine from the bladder to the urinary tract and causes 8.5% of end-stage renal disease in children. It is a complex genetic developmental disorder, in which ectopic embryonal ureteric budding is implicated in the pathogenesis. VUR is part of the spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). We performed an extensive association study for primary VUR using a two-stage, case-control design, investigating 44 candidate genes in the ureteric budding pathway in 409 Dutch VUR patients. The 44 genes were selected from the literature and a set of 567 single nucleotide polymorphisms (SNPs) capturing their genetic variation was genotyped in 207 cases and 554 controls. The 14 SNPs with p<0.005 were included in a follow-up study in 202 cases and 892 controls. Of the total cohort, ~50% showed a clear-cut primary VUR phenotype and ~25% had both a duplex collecting system and VUR. We also looked for association in these two extreme phenotype groups. None of the SNPs reached a significant p-value. Common genetic variants in four genes (GREM1, EYA1, ROBO2 and UPK3A) show a trend towards association with the development of primary VUR (GREM1, EYA1, ROBO2) or duplex collecting system (EYA1 and UPK3A). SNPs in three genes (TGFB1, GNB3 and VEGFA) have been shown to be associated with VUR in other populations. Only the result of rs1800469 in TGFB1 hinted at association in our study. This is the first extensive study of common variants in the genes of the ureteric budding pathway and the genetic susceptibility to primary VUR.

Urological and nephrological findings of renal ectopia.

PURPOSE: Urological characteristics of renal ectopia have been addressed previously but little is known about the functional consequences. We sought to study renal function, blood pressure, proteinuria and urological abnormalities in children with renal ectopia. As a secondary objective, we compared these parameters between simple and crossed ectopia. MATERIALS AND METHODS: For this retrospective, single center, observational study we reviewed case documents and radiological records. We also analyzed longitudinal data on blood pressure, proteinuria and kidney function. RESULTS: Renal ectopia was diagnosed in 41 cases, of which 26 (63%) were simple renal ectopia, ie unilateral pelvic kidney. In 32% of patients the diagnosis was made during prenatal screening. Median patient age was 0.24 years at diagnosis and 7.7 years at the most recent control visit. Associated urological abnormalities were found in 66% of patients. Voiding cystourethrography was performed in all patients, with vesicoureteral reflux shown in 13. In 8 of 10 cases with unilateral reflux the condition manifested in the orthotopic kidney. The relative function of the ectopic kidney on dimercapto-succinic acid scan was 38%, and in 22% of patients glomerular filtration rate was less than 90 ml per minute per 1.73 m(2). Albuminuria and proteinuria were absent in most cases. Longitudinal analysis of blood pressure, glomerular filtration rate and albuminuria revealed a stable course for all parameters. No substantial difference was observed between simple and crossed renal ectopia. CONCLUSIONS: Our data suggest no adverse effects on blood pressure or kidney function in children with renal ectopia. However, periodic followup seems warranted, at least until young adulthood.

Posterior urethral valves in three siblings: a case report and review of the literature.

BACKGROUND: Posterior urethral valves (PUVs), the most common congenital cause of lower urinary tract obstruction, have been described to occur in families. Until now, reports have been published on 10 cases of PUVs in two siblings and 13 cases of PUVs in identical and nonidentical twins, of which we provide an overview. CASES: We report for the first time on three siblings with PUVs, with a different presentation and course in the three brothers. This within-family variability is well noted and is even present in identical twins. CONCLUSIONS: This finding suggests that both genetic and environmental factors play a role in the presence and severity of PUVs. As brothers of patients with PUVs seem to be at increased risk of having PUVs, we suggest antenatal ultrasound screening in brothers of patients with PUVs in order to guide early and optimal care.