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A 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 PDFNPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.
Int J Mol Sci
November 2024
Department of Biochemistry, Faculty of Medicine, Universiti Kebangsaan Malaysia, Cheras, Kuala Lumpur 56000, Malaysia.
NPHS1 and NPHS2 are kidney gene components that encode for nephrin and podocin, respectively. They play a role in the progression of congenital (CNS) and steroid-resistant (SRNS) nephrotic syndrome. Hence, this study aimed to determine the prevalence and renal outcomes of NPHS mutations among pediatric patients with CNS and SRNS.
View Article and Find Full Text PDFThe autoimmune architecture of childhood idiopathic nephrotic syndrome.
Kidney Int
February 2025
Metabolic Disorders and Complications Program, Centre for Translational Biology, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Division of Nephrology, Faculty of Medicine and Health Sciences, McGill University, Montréal, Québec, Canada. Electronic address:
Article Synopsis
- Idiopathic nephrotic syndrome is the most common kidney disorder in children and is believed to be immune-related due to the effectiveness of glucocorticoids in treatment.!
- Recent research indicates that the syndrome may have an autoimmune cause, highlighted by the role of B-cell dysregulation and the presence of autoantibodies that target a podocyte antigen called nephrin.!
- The review focuses on the autoimmune aspects of the syndrome, particularly in pediatric cases, and explores the immune responses, genetic predispositions, and triggers that contribute to the disease's development and severity.!
Nucleoporin-associated steroid-resistant nephrotic syndrome.
Pediatr Nephrol
March 2025
Department of Nephrology, Rheumatology and Immunology, Fujian Children's Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, 966 Heng Yu Road, Jin'an District, Fuzhou, 350014, Fujian, People's Republic of China.
Nucleoporins (Nups) are a class of proteins that assemble to form nuclear pore complexes, which are related to nucleocytoplasmic transport, gene expression, and the cell cycle. Pathogenic variants in six genes encoding Nups, NUP85, NUP93, NUP107, NUP133, NUP160, and NUP205, cause monogenic steroid-resistant nephrotic syndrome (SRNS), referred to as nucleoporin-associated SRNS. In this paper, we review the epidemiology, structure and function of Nups, pathogenesis, phenotypes and genotypes, and management of nucleoporin-associated SRNS as well as implications for genetic counseling.
View Article and Find Full Text PDFTiming of relapse as a key indicator of steroid-sparing requirements in childhood idiopathic nephrotic syndrome.
J Nephrol
December 2024
Department of Paediatric, Hospital Sultanah Nur Zahirah, Ministry of Health Malaysia, Terengganu, Malaysia.
Background: Managing children with frequent relapses or steroid-dependent nephrotic syndrome poses challenges due to recurrent relapses necessitating prolonged steroid exposure, thus increasing susceptibility to long-term complications. Identifying those at risk of poor response to steroid therapy may be helpful to guide timely intervention with steroid-sparing agents. This study aimed to identify factors associated with steroid-sparing agent needs in children with frequent relapses or steroid-dependent nephrotic syndrome.
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