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To identify the TSC1 and TSC2 mutations in patients with tuberous sclerosis complex (TSC) associated with renal lesions, and to explore the relationship between genotypes and phenotypes.We analyzed 43 individuals affected with TSC accompanied by renal lesions using next-generation sequencing (NGS). We also performed Sanger sequencing to validate the NGS results.We reported a comprehensive mutation...
Disorders of sex development are challenging to evaluate and diagnose in the newborn. As pediatric urologists, our goals are to (1) identify patients who should be evaluated; (2) rule out life-threatening syndromes; and (3) involve a multidisciplinary team for evaluation, diagnosis, and gender assignment. This review briefly goes over the newborn differential diagnosis in disorders of sex development,...
We report 2 successful treatment cases of renal artery occlusion (RAO) related to multiple trauma. A 4-year-old boy was diagnosed with right RAO and liver laceration after a traffic accident. Surgical thrombectomy and revascularization were performed, but the lacerated liver was not sutured. The lacerated liver was surgically repaired 6 days post operation because of delayed bleeding. Thirteen percent...
To evaluate metabolic abnormalities in a contemporary pediatric population after their first stone episode. The incidence of pediatric nephrolithiasis is increasing and therefore the etiologies contributing to today's pediatric stone formation may also be changing.A retrospective review of all consecutive children presenting after their first kidney stone between 2000 and 2014 was performed. We compared...
Metanephric adenoma is a rare pediatric renal tumor, generally considered to be benign. It can be difficult to distinguish from Wilms tumor and renal cell carcinoma based on imaging alone, and even may be difficult on histopathologic analysis. We present a case of a large cystic metanephric adenoma managed with surgical resection. This case highlights the difficulty in managing cystic renal lesions...
To define safety and effectiveness of cystostomy button in the management of bladder drainage in pediatric patients with neurogenic bladder, and report our personalized surgical technique.This study is a retrospective analysis of patients undergoing cystostomy button placement for bladder drainage from October 2009 to December 2015. Endoscopic and open surgical techniques and medium-term complication...
A 71-year-old man with metastatic renal cell carcinoma presented with abdominal pain during treatment with axitinib. The diagnoses were axitinib-induced pneumatosis intestinalis (PI) and acute acalculous cholecystitis (AC). The patient's condition improved with antibiotics, bowel rest, and discontinuation of the axitinib therapy. This is the first case report in the literature. PI and AC induced by...
To review the intermediate- to long-term surgical complications following feminizing reconstructive surgery for patients with congenital adrenal hyperplasia (CAH) at a single tertiary center. Genitourinary reconstructive surgery is pivotal to favorable cosmetic and functional outcomes for patients with CAH.We conducted a retrospective review identifying 26 patients from April 2003 to April 2015 who...
Dextranomer/hyaluronic acid copolymer (Deflux) first received Food and Drug Administration approval in 2001 for endoscopic injection in children with grade II-IV vesicoureteral reflux VUR. As experience has grown, Deflux has been used more liberally with encouraging results. We report 3 cases where Deflux was used in off-label fashion, resulting in delayed ureteral obstruction and loss of renal function...
We present an unusual pediatric case of invasive upper tract urothelial carcinoma with an associated genetic predisposition. A 14-year-old female presented with intermittent right flank pain, and was found to have a poorly functioning hydronephrotic right kidney. Laparoscopic nephrectomy was performed. Pathology demonstrated upper tract urothelial carcinoma, and she subsequently underwent completion...
To determine if 24-hour urinary parameters in children with nephrolithiasis across 4 institutions were influenced by body mass index (BMI).The 24-hour urinary parameters obtained from children with nephrolithiasis between 2000 and 2013 were stratified by BMI percentile ≥85th and <85th (overweight and obese patients vs healthy weight, respectively). A total of 206 children were included in the study...
To characterize patients who develop late obstruction after subureteral injection of bulking agent for the treatment of pediatric vesicoureteral reflux (VUR).We retrospectively evaluated the medical records of all patients who underwent endoscopic injection for the correction of VUR during 2008-2015 in 2 centers in Israel: Bnai-Zion Medical Center, Haifa, and Schneider Children's Medical Center, Petah...
Transverse testicular ectopia (TTE) is a rare form of ectopic testis observed in boys with a normal 46, XY karyotype. TTE can be associated with persistent Müllerian duct syndrome or other genital anomalies such as hypospadias. However, TTE concomitant with both persistent Müllerian duct remnants and hypospadias has never been reported in the literature. A case of chromosomal disorders of sex development...
To evaluate the effect of a novel at-home approach to electrical foot stimulation of peripheral tibial nerve branches on the frequency of nocturnal enuresis episodes in children.Children aged 5 to 18 having 2 or more bedwetting episodes per week for at least 3 consecutive months were eligible. The study was a total of 6 weeks. Participants completed a baseline nighttime voiding diary during the first...
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