ReviewClinical and experimental nephrology2019
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Review in Clinical and experimental nephrology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
143 citing papers in PubMed, 2 syntheses or guidelines pooled it, 222 citations in OpenAlex.
- Potential Renal Damage Biomarkers in Alport Syndrome-A Review of the Literature.International journal of molecular sciences · 2022Pooled it
- Kidney biopsy guidebook 2020 in Japan.Clinical and experimental nephrology · 2021Guideline
- Bibliometric analysis of Alport syndrome: genetic foundations, clinical implications, and the transition to precision medicine.International urology and nephrology · 2026Article
- Beyond urinalysis: a review of life-course chronic kidney disease screening across health examination systems in Japan.Clinical and experimental nephrology · 2026Review
- Heterozygous COL4A3/COL4A4 variants: diagnostic trends and clinical kidney outcomes.Clinical kidney journal · 2026Article
- Alport Syndrome Family Screening and Management: Experience of a Tertiary Center.Kidney medicine · 2026Article
- Global trends and emerging research hotspots in Alport syndrome: a comprehensive bibliometric analysis (1961-2024).Translational pediatrics · 2026Article
- mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome.Kidney international reports · 2026Article
- Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025.Molecular genetics & genomic medicine · 2026Review
- Case Report: A Canonical Splice-Site COL4A5 Variant in Alport Syndrome in a Kazakhstani Family.Current issues in molecular biology · 2026Article
- German Clinical Practice Guideline on Microhematuria in Children and Young Adults: Evaluating Early Detection of Kidney Disease.Kidney international reports · 2026Article
- Hearing loss phenotypes in Alport syndrome: experience in a tertiary referral center.Kidney research and clinical practice · 2026Article
- Tips of family history taking in diagnosing Alport syndrome: a report of six cases.CEN case reports · 2026Article
- Identification and pathogenicity analysis of a novel intronicFrontiers in medicine · 2026Article
- Investigation of clinical and genetic characteristics of Alport syndrome using a national registry in Japan (JP-ALPS).Clinical and experimental nephrology · 2026Article
- Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy.International journal of molecular sciences · 2025Article
- The interplay between the cardiovascular system and pediatric congenital or acquired kidney diseases.Pediatric nephrology (Berlin, Germany) · 2025Review
- Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.Kidney international reports · 2025Article
- Expert consensus on the off-label use of drugs for pediatric rare diseases in China (2025 edition).Translational pediatrics · 2025Review
- Systematic metabolomic study on the plasma and urine of a mouse model of Alport syndrome.Scientific reports · 2025Article
83 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 13 institutions in 1 country.
Funding
Abstract
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, while ADAS and ARAS are caused by those in COL4A3/COL4A4. Diagnosis is conventionally made pathologically, but recent advances in comprehensive genetic analysis have enabled genetic testing to be performed for the diagnosis of AS as first-line diagnosis. Because of these advances, substantial information about the genetics of AS has been obtained and the genetic background of this disease has been revealed, including genotype-phenotype correlations and mechanisms of onset in some male XLAS cases that lead to milder phenotypes of late-onset end-stage renal disease (ESRD). There is currently no radical therapy for AS and treatment is only performed to delay progression to ESRD using nephron-protective drugs. Angiotensin-converting enzyme inhibitors can remarkably delay the development of ESRD. Recently, some new drugs for this disease have entered clinical trials or been developed in laboratories. In this article, we review the diagnostic strategy, genotype-phenotype correlation, mechanisms of onset of milder phenotypes, and treatment of AS, among others.
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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.