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'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.
BMJ Case Rep
January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
View Article and Find Full Text PDFVesicoureteral reflux of a solitary kidney treated with endoscopic injection therapy comprising tandem injections administered with the assistance of a ureteral guidewire in a young girl.
Urol Case Rep
January 2025
Department of Pediatric Urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
We present the case of a 12-year-old girl with vesicoureteral reflux (VUR) of a solitary kidney treated using a modified hydrodistention implantation technique. A needle was set parallel to the ureteral guidewire inserted through the ureteral orifice before performing injections to correct VUR. Multi-site tandem injections were administered along the wire, which confirmed the direction and length of the ureteral tunnel.
View Article and Find Full Text PDFFactors Influencing Success in Endoscopic Treatment of Grade 4-5 Primary Vesicoureteric Reflux (VUR) in Infancy and Childhood.
J Pediatr Surg
January 2025
Chelsea & Westminster Hospital and Imperial College Hospitals (West London Children's Hospital Alliance), Imperial College London, United Kingdom. Electronic address:
Introduction: There is equipoise among pediatric urologists regarding endoscopic versus surgical intervention for symptomatic Grade 4-5 Vesicoureteric Reflux (VUR), particularly in infancy. Our aim was to assess outcomes of first-line endoscopic treatment in all cases of symptomatic Grade 4-5 VUR and we hypothesised that using endoscopic Dx/HA as first line management for primary VUR would obviate the need for ureteric reimplantation in the majority of cases.
Methods: Retrospective single-surgeon analysis of consecutive patients with primary Grade 4-5 VUR over 15 years.
Robot-assisted ureteral reconstruction for managing kidney transplant patients with ureteric complications.
Investig Clin Urol
January 2025
Department of Urology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Purpose: To evaluate the feasibility of robot-assisted ureteral reconstruction as a minimally invasive alternative to open surgery for managing ureteric complications in transplanted kidneys.
Materials And Methods: From January 2020 to December 2023, robot-assisted ureteral reconstruction was performed on fifteen kidney transplant patients with vesicoureteral reflux (VUR) or ureteral stricture who had previously failed endoscopic treatments.
Results: Twelve females and three males, with a mean age of 48.
Vesicoureteral Reflux in Transplanted Kidney Among Children With Congenital Anomalies of Kidney and Urinary Tract: Case-Control Study Assessing Impact on Renal Function and Graft Survival.
Pediatr Transplant
February 2025
Department of Pediatric Kidney Transplantation, Hospital Samaritano de São Paulo, São Paulo, Brazil.
Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are a common cause of kidney failure in childhood. Renal transplantation is the modality of treatment used for kidney failure that promotes improved quality of life for pediatric patients. It is believed that patients with CAKUT are more predisposed to developing graft reflux in the post-transplant period, but its influence on graft survival is poorly understood.
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