ReviewPediatric nephrology (Berlin, Germany)2019
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Review in Pediatric nephrology (Berlin, Germany), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers.
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Who cites it
88 citing papers in PubMed, 146 citations in OpenAlex.
- Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.Molecular genetics & genomic medicine · 2019Trial
- Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report.Molecular genetics and metabolism reports · 2026Article
- Transcriptome Sequencing Reveals Hidden Diagnostic Clues in the Alport Spectrum.Kidney international reports · 2026Article
- Global trends and emerging research hotspots in Alport syndrome: a comprehensive bibliometric analysis (1961-2024).Translational pediatrics · 2026Article
- Multi-Modal, Machine Learning-Driven Framework Integrating Multi-Omics for Personalized Chronic Kidney Disease Management.Journal of clinical medicine · 2026Review
- Thin Glomerular Basement Membrane Phenotypes With No Identified PathogenicKidney international reports · 2026Article
- mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome.Kidney international reports · 2026Article
- German Clinical Practice Guideline on Microhematuria in Children and Young Adults: Evaluating Early Detection of Kidney Disease.Kidney international reports · 2026Article
- Article
- Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.Life (Basel, Switzerland) · 2026Article
- Combined Alport Syndrome Type 3A and Mitochondrial Disease Presenting with a Thin Base Membrane and Overt Albuminuria.Internal medicine (Tokyo, Japan) · 2026Article
- Clinical value of luciferase-based bioluminescence assay in diagnosis of Alport syndrome.Frontiers in pediatrics · 2026Article
- Treatment Approaches for Alport Syndrome.Journal of the American Society of Nephrology : JASN · 2026Review
- A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing.BMC nephrology · 2025Article
- Article
- Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease.Seminars in nephrology · 2025Review
- Investigation of current clinical practices and perceptions of patients and caregivers regarding Alport syndrome in South Korea.Kidney research and clinical practice · 2025Article
- Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants.Journal of the American Society of Nephrology : JASN · 2025Article
- Pathological diagnosis of Alport syndrome.Kidney research and clinical practice · 2025Article
- Prospective Cohort Study in Alport Syndrome Patients Under Standard Therapy.Kidney international reports · 2025Article
28 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 12 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments. In individuals with suspected Alport syndrome, all three COL4A5, COL4A3 and COL4A4 genes should be examined for pathogenic variants, probably by high throughput-targeted next generation sequencing (NGS) technologies, with a customised panel for simultaneous testing of the three Alport genes. These techniques identify up to 95% of pathogenic COL4A variants. Where causative pathogenic variants cannot be demonstrated, the DNA should be examined for deletions or insertions by re-examining the NGS sequencing data or with multiplex ligation-dependent probe amplification (MLPA). These techniques identify a further 5% of variants, and the remaining few changes include deep intronic splicing variants or cases of somatic mosaicism. Where no pathogenic variants are found, the basis for the clinical diagnosis should be reviewed. Genes in which mutations produce similar clinical features to Alport syndrome (resulting in focal and segmental glomerulosclerosis, complement pathway disorders, MYH9-related disorders, etc.) should be examined. NGS approaches have identified novel combinations of pathogenic variants in Alport syndrome. Two variants, with one in COL4A3 and another in COL4A4, produce a more severe phenotype than an uncomplicated heterozygous change. NGS may also identify further coincidental pathogenic variants in genes for podocyte-expressed proteins that also modify the phenotype. Our understanding of the genetics of Alport syndrome is evolving rapidly, and both genetic and non-genetic factors are likely to contribute to the observed phenotypic variability.
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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.