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Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.
View Article and Find Full Text PDFHallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.
Nat Rev Urol
January 2025
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients.
View Article and Find Full Text PDFPosterior urethral valves: Examining the relationship of socioeconomic factors in disease presentation and progression.
J Pediatr Urol
January 2025
Division of Pediatric Urology, Department of Urology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Introduction: A significant portion of posterior urethral valve patients continue to progress to end stage renal disease despite improvements in medical care. Socioeconomic status has been connected to various healthcare outcomes but has not been evaluated in relation to longitudinal outcomes of posterior urethral valves.
Objective: To evaluate the effect of socioeconomic status on the progression to renal failure among patients with posterior urethral valves.
Chronic kidney disease in pediatrics: Closing the gap between knowledge and clinical practice.
Arch Argent Pediatr
January 2025
Pediatric Nephrology and Renal Transplant Service, Hospital Italiano de Buenos Aires, City of Buenos Aires, Argentina.
Renal Histopathological Changes in Children With Congenital Ureteropelvic Junction Obstruction.
Clin Pediatr (Phila)
February 2025
Department of Pediatric Surgery, St. John's Medical College Hospital, Bangalore, Karnataka, India.
Renal histologic changes in congenital ureteropelvic junction obstruction (UPJO), although well documented, are sparsely studied in children. This study aims to establish a histological grading depending on the glomerular and tubulo-interstitial changes in hydronephrotic kidneys and determine correlation with age at surgery and impact on function post-pyeloplasty. A renal cortical wedge biopsy was obtained after pyeloplasty and histological changes were graded from 1 to 4.
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