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A "Trial within a Cohort" platform for pediatric clinical trials on idiopathic nephrotic syndrome: scope, objectives, and design of the retrospective-prospective cohort PIN'SNP.
Pediatr Nephrol
March 2025
Centre d'Investigation Clinique 1435, CHU de Limoges, Limoges, France.
Background: Idiopathic nephrotic syndrome (INS) in children is the most common glomerular disease and is characterized by recurrent relapses. There is no community consensus on the treatment of relapsing forms of nephrotic syndrome in children, unlike that for the initial presentation. To date, available treatments only enable relapsing patients to be maintained in remission, rather than modifying the course of the disease; therefore, more therapeutic trials are needed.
View Article and Find Full Text PDFRASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein-Barr Virus-Induced Hodgkin's Lymphoma.
Pediatr Allergy Immunol Pulmonol
January 2025
Clinical Immunology Unit, Faculty of Medicine and Health Sciences, Department of Paediatrics, Universiti Putra Malaysia, Selangor, Malaysia.
: RAS guanyl-releasing protein 1 (RASGRP1) deficiency is characterized by immune dysregulation and Epstein-Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome. : Here, we described a 7-year-old girl who was diagnosed with diffuse mesangial sclerosis at 5 months old and subsequently developed chronic bilateral neck swelling at the age of 3 years.
View Article and Find Full Text PDFA multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental.
PLoS One
December 2024
Department of Pediatrics, The First Hospital of Guangxi Medical University, Nanning, China.
This study aimed to discuss the pathogenic hereditary factors of children with steroid-resistant nephrotic syndrome (SRNS) in Guangxi, China. We recruited 89 patients with SRNS or infantile NS from five major pediatric nephrology centers in Guangxi, and conducted a retrospective analysis of clinical data. Whole-exome sequencing analysis was also performed on all patients.
View Article and Find Full Text PDFNovel Variations in KIRREL1 Gene and Infantile Onset Nephrotic Syndrome.
Indian J Nephrol
June 2024
Division of Pediatric Nephrology, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
Compound heterozygous variants of ANKFY1 in a child with infantile-onset proteinuria and movement disorder.
Clin Kidney J
June 2024
Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
The ANKFY1 gene encodes a protein that belongs to double zinc finger proteins involved in endocytosis. Only one family with steroid-resistant nephrotic syndrome has been reported carrying a homozygous variant in ANKFY1 so far. Here we describe the second case where a 13-year-old boy presented with infantile-onset proteinuria and movement disorder.
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