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Investigation of TLR4 Polymorphism in Children with Vesicoureteral Reflux and Renal Scarring.
Balkan J Med Genet
December 2024
Department of Pediatric Endocrinology, S.B. Keçiören Eğitim ve Araştırma Hastanesi, Ankara, Turkey.
Vesicoureteral reflux (VUR) is an important factor in the etiology of recurrent urinary tract infections (UTIs). Permanent kidney damage may develop in children with high-grade VUR in the long term. This damage may progress with the development of scar tissue in some patients.
View Article and Find Full Text PDFSpatiotemporal distribution of Wnt signaling pathway markers in human congenital anomalies of kidney and urinary tract.
Acta Histochem
March 2025
Department of Anatomy, University of Mostar, School of Medicine, Mostar 88000, Bosnia and Herzegovina; Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Split 21000, Croatia; Center for translational research in biomedicine, University of Split School of Medicine, Split 21000, Croatia. Electronic address:
This study aimed to investigate the spatiotemporal expression patterns of key markers involved in regulating the canonical and non-canonical Wnt pathway during human fetal kidney development, comparing healthy (CTRL) and congenital anomalies of the kidney and urinary tract (CAKUT) affected kidneys. Human fetal kidneys, ranging from the 18th to the 38th developmental weeks, including various CAKUT phenotypes (horseshoe, dysplastic, duplex and hypoplastic), underwent double immunofluorescence microscopy analysis following antibody staining. Immunoreactivity levels were quantified in different kidney structures, and expression dynamics were assessed using linear and nonlinear regression modeling techniques.
View Article and Find Full Text PDFPosterior urethral valve complicated by bilateral urinoma and vesicoureteral reflux.
BMJ Case Rep
January 2025
Department of Radiodiagnosis, Kasturba Medical College Mangalore, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
We discuss a case of a late preterm neonate who presented with hematuria and impaired renal function. Antenatally, the baby was diagnosed with bilateral gross hydroureteronephrosis. The postnatal abdominal ultrasound revealed bilateral subcapsular renal collections, mild hydroureteronephrosis, renal parenchymal changes and a cystic lesion around the bladder neck.
View Article and Find Full Text PDF'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 PDFFactors Influencing Success in Endoscopic Treatment of Grade 4-5 Primary Vesicoureteric Reflux (VUR) in Infancy and Childhood.
J Pediatr Surg
March 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.
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