New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CARE-compliant case report.

RATIONALE: Pediatric patients with WTl-associated syndromes (including Wilms' tumor-aniridia syndrome and Denys-Drash syndrome), Perlman syndrome, mosaic aneuploidy, and Fanconi anemia with a biallelic breast cancer type 2 susceptibility protein mutation have the highest risk of developing Wilms' tumor. PATIENT CONCERNS AND DIAGNOSIS: We describe a patient with bilateral metachronous Wilms' tumor, ambiguous genitalia characterized by 46, XY disorder of sexual development (DSD) with scrotal hypospadias and bilateral abdominal cryptorchidism, but without nephropathy. At the age of 7 months, the child underwent left nephrectomy with left orchiopexy. At follow-up after 8 months, a second tumor with a diameter of 10 mm was detected in abdominal CT scans at the lower pole of the right kidney. INTERVENTION: Intra-operative macroscopic inspection of the right kidney revealed a tight attachment of the right proximal ureter to the tumor. Thus, retroperitoneoscopic resection of the lower pole of the right kidney had to be changed to an open surgical procedure with partial resection of the proximal ureter and high uretero-ureterostomy. We subsequently performed orchiopexy and two-stage correction of hypospadias using a free skin graft. OUTCOMES: At the last follow-up at the age of 8 years, no pathology requiring treatment was noted. A pair-end-reading (2 × 125) DNA analysis with an average coverage of at least 70 to 100 × revealed a previously unknown heterozygous mutation in exon 7 of the Wilms' tumor suppressor gene 1 (WT1) gene (chr11:32417947G>A), leading to the appearance of a site of premature translation termination in codon 369 (p.Arg369Ter, NM_024426.4). This mutation had not been registered previously in the control samples "1000 genomes," Exome Sequencing Project 6500, and the Exome Aggregation Consortium. Thus, to the best of our knowledge this represents a newly identified mutation causing incomplete Denys-Drash syndrome.

Risk factors for obstructive complications after endoscopic correction of vesico-ureteral reflux using polyacrylate polyalcohol copolymer.

Use of polyacrylate-polyalcohol copolymer (PPC) after endoscopic correction (EC) of vesico-ureteral reflux (VUR) is highly effective but is associated with a higher risk of obstructive complications (OC) compared with other implants. We undertook a STROBE compliant retrospective investigation and studied the OC risk factors to increase the practical safety of PPC.Overall, 798 patients (464 [58.1%] girls and 334 [41.9%]) boys) from 5 hospitals in whom PPC was routinely used were evaluated retrospectively. The patients were subdivided into 2 groups. Group I consisted of 754 (94.5%) children (449 [59.5%] girls and 305 [40.5%] boys) without OC. Median age was 41 months [Q1: 18.0; Q3: 81.0]. Group II comprised 44 (5.5%) patients (29 [65.9%] boys and 15 [34.1%] girls) experiencing OC, and their median age was 21.5 months [Q1: 12.0; Q3: 43.0]. Clinical and renal ultrasound examinations were carried out 1 day and 1 month after EC, and then every 6 months after EC. At the follow-up examination approximately 6 months after EC, voiding cysto-urethrography (VCUG) was performed. All patients with OC underwent diuretic renography.OC occurred in 44 (5.5%) of 798 children, in some cases as late as 60 months after endoscopic injection of the bulking agent PPC for correction of VUR. Univariate analysis revealed that younger age (P < .001), higher grade of VUR (P < .001), male gender (P < .001), second injection (P = .003), and EC injection using hydrodistension implantation technique (HIT; P < .001) represented significant risk factors. At multivariate analysis, only male gender (P = .0078), younger age (P = .0044), HIT technique (P < .0001), and second injection (P = .04) represented significant risk factors for the occurrence of OC.We identified young age, male gender, high reflux grade, HIT technique, and second endoscopic injections as factors associated with the risk of OC after EC of VUR using PPC as a bulking agent. Thus, patients who have undergone EC with PPC must be monitored sonographically for occurrence of OC for at least 60 months after the intervention.