Compensatory enlargement of a solitary functioning kidney during fetal development

Objective To determine the degree of compensatory enlargement, and its time of onset, of the solitary functioning kidney (SFK) in fetuses with unilateral renal agenesis (URA) or unilateral multicystic kidney dysplasia (MCKD). methods This was a retrospective study of fetuses with URA or MCKD diagnosed prenatally and confirmed postnatally in the period from January 1999 to May 2011. Fetuses with any other congenital anomalies were excluded. Measurements of kidney length were retrieved from our prenatal ultrasound database and a nomogram was established and compared with that for normal kidney length. results In total, 67 fetuses were identified, 60 with MCKD and seven with URA, for which we obtained 147 kidney length measurements from our database. Mean gestational age at time of measurement was 29.7 (range, 18.436.7) weeks. Compensatory enlargement, defined as renal length >95th percentile for gestational age, was demonstrated in 87% of the MCKD cases and 100% of the URA cases (88% of cases overall). We estimated the mean enlargement for an SFK (defined as difference from 50th percentile for normal renal length) at 36 weeks' gestation to be 23.1% (9.25 mm), with the mean value being 11.4% (5.04 mm) greater than the 95th percentile for a normal kidney at this gestational age. Compensatory enlargement of SFKs was evident from the 20th week of gestation onwards. Conclusion Compensatory enlargement of SFKs occurs in almost 90% of fetuses with MCKD or URA, and may be observed from the 20th week of gestation onwards

Introducing the HOPE (Hypospadias Objective Penile Evaluation)-score: A validation study of an objective scoring system for evaluating cosmetic appearance in hypospadias patients

Objective: To determine the reliability and internal validity of the Hypospadias Objective Penile Evaluation (HOPE)-score, a newly developed scoring system assessing the cosmetic outcome in hypospadias. Patients and methods: The HOPE scoring system incorporates all surgically-correctable items: position of meatus, shape of meatus, shape of glans, shape of penile skin and penile axis. Objectivity was established with standardized photographs, anonymously coded patients, independent assessment by a panel, standards for a "normal" penile appearance, reference pictures and assessment of the degree of abnormality. A panel of 13 pediatric urologists completed 2 questionnaires, each consisting of 45 s The inter-observer reliability, intra-observer reliability and internal validity were analyzed. Results: The correlation coefficients for the HOPE-score were as follows: intra-observer reliability 0.817, inter-observer reliability 0.790, "non-parametric" internal validity 0.849 and "parametric" internal validity 0.842. These values reflect good reproducibility, sufficient agreement among observers and a valid measurement of differences and similarities in cosmetic appearance. Conclusions: The HOPE-score is the first scoring system that fulfills the criteria of a valid measurement tool: objectivity, reliability and validity. These favorable properties support its use as an objective outcome measure of the cosmetic result after hypospadias surgery. (C) 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved

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, similar to 50% showed a clear-cut primary VUR phenotype and similar to 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