ArticleNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2017
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Article in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Clinical Practice Guideline: Microhematuria in Children and Young Adults.Deutsches Arzteblatt international · 2024Guideline
- Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025.Molecular genetics & genomic medicine · 2026Review
- 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
- Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.Kidney international reports · 2026Article
- Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome.Frontiers in genetics · 2026Article
- An Elusive Diagnosis of Autosomal Dominant Alport Syndrome: Genomic Sequencing Is a Game Changer.Cureus · 2025Article
- Dapagliflozin, in addition to ramipril, ameliorates kidney disease progression in mice with Alport syndrome.American journal of physiology. Renal physiology · 2025Article
- Ezetimibe Enhances Lipid Droplet and Mitochondria Contact Formation, Improving Fatty Acid Transfer and Reducing Lipotoxicity in Alport Syndrome Podocytes.International journal of molecular sciences · 2024Article
- A community-centric model for conference co-creation: the world conference on CDG for patients, families and professionals.Research involvement and engagement · 2024Article
- Mechanism of protective actions of sparsentan in the kidney: lessons from studies in models of chronic kidney disease.Clinical science (London, England : 1979) · 2024Review
- Review
- Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.BMC medical genomics · 2023Article
- Article
- Anti-microRNA-21 Therapy on Top of ACE Inhibition Delays Renal Failure in Alport Syndrome Mouse Models.Cells · 2022Article
- Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2021Article
- In Vivo Assessment of Metabolic Abnormality in Alport Syndrome Using Hyperpolarized [1-Metabolites · 2021Article
- Long-term outcome among females with Alport syndrome from a single pediatric center.Pediatric nephrology (Berlin, Germany) · 2021Article
- Novel Mutations ofBioMed research international · 2021Review
- Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome.Life (Basel, Switzerland) · 2020Article
- Alport syndrome: Proteomic analysis identifies early molecular pathway alterations in Col4a3 knock out mice.Nephrology (Carlton, Vic.) · 2020Article
Corrections and comments
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Authors and funding
38 authors at 20 institutions in 13 countries.
Funding
Abstract
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards discovering new therapeutic targets and new therapies. The 2015 International Workshop on Alport Syndrome targeted unmet needs in basic science, genetics and diagnosis, clinical research and current clinical care. In three intensive days, more than 100 international experts including physicians, geneticists, researchers from academia and industry, and patient representatives from all over the world participated in panel discussions and breakout groups. This report summarizes the most important priority areas including (i) understanding the crucial role of podocyte protection and regeneration, (ii) targeting mutations by new molecular techniques for new animal models and potential gene therapy, (iii) creating optimal interaction between nephrologists and geneticists for early diagnosis, (iv) establishing standards for mutation screening and databases, (v) improving widespread accessibility to current standards of clinical care, (vi) improving collaboration with the pharmaceutical/biotech industry to investigate new therapies, (vii) research in hearing loss as a huge unmet need in Alport patients and (viii) the need to evaluate the risk and benefit of novel (including 'repurposing') therapies on an international basis.
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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.