ArticleKidney international2014
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
Article in Kidney international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers.
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Who cites it
133 citing papers in PubMed, 234 citations in OpenAlex.
- Genetic kidney diseases: Decoding molecular taxonomies to drive precision nephrology and therapeutic innovation.Genes & diseases · 2027Review
- Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report.Molecular genetics and metabolism reports · 2026Article
- Pathogenic variants in COL4A3, COL4A4, JAG1, and NPHS2 genes in focal segmental glomerulosclerosis: Insights from targeted gene panel sequencing.Molecular genetics and metabolism reports · 2026Article
- Modulation of the Apolipoprotein M/S1PR4 Pathway Reduces Podocyte Lipid Overload in Alport Syndrome via Distinct Autophagy and Efflux Mechanisms.Journal of the American Society of Nephrology : JASN · 2026Article
- German Clinical Practice Guideline on Microhematuria in Children and Young Adults: Evaluating Early Detection of Kidney Disease.Kidney international reports · 2026Article
- Fifty Shades of Risk: Population Studies and the Genetic Architecture of Kidney Diseases.Journal of the American Society of Nephrology : JASN · 2026Review
- Cascade of opportunistic infections in focal segmental glomerulosclerosis under dual immunosuppressive therapy: a case report.Frontiers in immunology · 2026Article
- Alport syndrome complicated with steroid-sensitive nephrotic syndrome: a case report.Pediatric nephrology (Berlin, Germany) · 2025Article
- Collagen IV in Gould syndrome and Alport syndrome.Nature reviews. Nephrology · 2025Review
- Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants inClinical kidney journal · 2025Article
- The complexity of kidney disease secondary to collagen IV variants: insights into phenotypic variability from a large Sicilian pedigree.Journal of nephrology · 2025Article
- Pathological diagnosis of Alport syndrome.Kidney research and clinical practice · 2025Article
- Detection of Alport gene variants in children and young people with persistent haematuria.Pediatric nephrology (Berlin, Germany) · 2025Article
- Candidate Genetic Modifiers in Alport Syndrome: A Case Series.Life (Basel, Switzerland) · 2025Article
- Prognostic significance and multivariate modeling of COL4A family genes and HMGA2 in glioma.Frontiers in pharmacology · 2025Article
- Monogenic Kidney Diseases in Adults With Chronic Kidney Disease (CKD).Deutsches Arzteblatt international · 2024Review
- The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.Kidney international reports · 2024Article
- Article
- Anti-Tumor Necrosis Factor Treatment for Glomerulopathy: Case Report and Review of Literature.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2024Article
- New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.Pediatric nephrology (Berlin, Germany) · 2024Article
73 more citing papers are in PubMed but not listed here.
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20 authors at 9 institutions in 4 countries.
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Abstract
Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome (AS), thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane (GBM) findings. Secondary FSGS is known to develop in classic AS at later stages of the disease. Here, we present seven families with rare or novel variants in COL4A3 or COL4A4 (six with single and one with two heterozygous variants) from a cohort of 70 families with a diagnosis of hereditary FSGS. The predominant clinical finding at diagnosis was proteinuria associated with hematuria. In all seven families, there were individuals with nephrotic-range proteinuria with histologic features of FSGS by light microscopy. In one family, electron microscopy showed thin GBM, but four other families had variable findings inconsistent with classical Alport nephritis. There was no recurrence of disease after kidney transplantation. Families with COL4A3 and COL4A4 variants that segregated with disease represent 10% of our cohort. Thus, COL4A3 and COL4A4 variants should be considered in the interpretation of next-generation sequencing data from such patients. Furthermore, this study illustrates the power of molecular genetic diagnostics in the clarification of renal phenotypes.
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