3 results match your criteria: "Guizhou Provincial Children's Medical Center[Affiliation]"
Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review.
Mol Genet Genomic Med
February 2025
Department of Pediatrics, The Affiliated Hospital of Guizhou Medical University, Guizhou Provincial Children's Medical Center, Guiyang, Guizhou, China.
Background: Alport syndrome involves chronic progressive kidney failure and extrarenal organ damage caused by COL4A3, COL4A4, and COL4A5 mutations.
Methods: We initially discerned a COL4A3 splicing mutation via next-generation sequencing. Next, we used bioinformatics, renal biopsy pathology, and an in vitro minigene experiment.
Aberrant serum-derived FN1 variants bind to integrin β1 on glomerular endothelial cells contributing to thin basement membrane nephropathy.
Int J Biol Macromol
November 2024
Department of Nephrology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing, PR China. Electronic address:
The glomerular basement membrane (GBM) is a critical component of the glomerular filtration barrier (GFB), with its thickness directly influencing renal function. While a uniformly thinned GBM can cause hematuria while preserving normal renal function, this condition is typically diagnosed as thin basement membrane nephropathy (TBMN). However, the pathogenesis and potential progression to renal insufficiency of TBMN are not fully understood.
View Article and Find Full Text PDFCharacterization of glomerular basement membrane components within pediatric glomerular diseases.
Clin Kidney J
March 2024
Department of Nephrology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing, P.R. China.
Article Synopsis
- Disruptions in gene expression related to the glomerular basement membrane (GBM) could lead to kidney problems in children, yet understanding the GBM's role in pediatric kidney diseases requires more research.
- The study focused on key GBM components like Collagen IV, Laminin, and Integrin across common pediatric kidney diseases, revealing specific changes in their expression.
- Findings showed increased expression of certain proteins in idiopathic nephrotic syndrome (INS), while reduced levels were noted in other conditions like IgA nephropathy and lupus nephritis, indicating structural changes in the GBM common to various childhood kidney diseases.