ReviewPediatric nephrology (Berlin, Germany)2022
Population-based studies reveal an additive role of type IV collagen variants in hematuria and albuminuria.
Review in Pediatric nephrology (Berlin, Germany), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 15 citations in OpenAlex.
- Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.Kidney international reports · 2026Article
- Genotype-Based Molecular Mechanisms in Alport Syndrome.Journal of the American Society of Nephrology : JASN · 2025Review
- Collagen formation, function and role in kidney disease.Nature reviews. Nephrology · 2025Review
- Trichostatin A suppresses hearing loss by reducing oxidative stress and inflammation in an Alport syndrome model.PloS one · 2025Article
- A case report: Alport syndrome and growth hormone deficiency associated with a newTranslational pediatrics · 2024Article
- Replacing a kidney biopsy by exome sequencing in undetermined kidney diseases-not yet ready for prime time!Clinical kidney journal · 2024Article
- GWAS for the composite traits of hematuria and albuminuria.Scientific reports · 2023Article
- Alport Syndrome: Clinical Spectrum and Therapeutic Advances.Kidney medicine · 2023Review
- Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Biochemical composition of the glomerular extracellular matrix in patients with diabetic kidney disease.World journal of diabetes · 2022Review
- Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians.International journal of molecular sciences · 2021Review
- LAMA2 and LOXL4 are candidate FSGS genes.BMC nephrology · 2021Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Specific variants in genes that encode the α3α4α5 chains of type IV collagen cause Alport syndrome (AS), which encompass a clinical spectrum from isolated hematuria to multisystem disease affecting sight, hearing and kidney function. The commonest form is X-linked Alport syndrome (XLAS; COL4A5) with autosomal AS (COL4A3 and COL4A4) comprising a minority of cases. While historic data estimates the frequency of AS at 1:5000-10,000, recent population-based genetic studies suggest the prevalence is considerably higher. Genome-wide association studies (GWAS) have been performed in the Icelandic (deCODE) and UK (UK Biobank) populations, demonstrating an association of type IV collagen gene variants with AS relevant kidney traits. In the Icelandic population, 1 in 600 carries a 2.5-kb COL4A3 coding deletion or a COL4A3 missense variant (rs200287952[A], Gly695Arg), both of which are strongly associated with hematuria and albuminuria (P values = 1.9 × 10
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.