ArticlePediatric nephrology (Berlin, Germany)2018
Renal, auricular, and ocular outcomes of Alport syndrome and their current management.
Article in Pediatric nephrology (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Prevalence of diagnostic Mendelian kidney disease variants in type 2 diabetes with and without diabetic kidney disease.Journal of diabetes investigation · 2026Article
- Hearing loss phenotypes in Alport syndrome: experience in a tertiary referral center.Kidney research and clinical practice · 2026Article
- Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome.Frontiers in genetics · 2026Article
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.Korean journal of ophthalmology : KJO · 2024Article
- Role of the Innate Immune Response in Glomerular Disease Pathogenesis: Focus on Podocytes.Cells · 2024Review
- Article
- Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.Molecular genetics & genomic medicine · 2024Article
- Higher incidence of hematuria was observed in female children with microtia.Scientific reports · 2023Article
- Article
- Case Report: Identification of a Novel Heterozygous Missense Mutation inFrontiers in genetics · 2022Article
- Current diagnosis and management of rare pediatric diseases in China.Intractable & rare diseases research · 2021Review
- Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2021Article
- Long-term outcome among females with Alport syndrome from a single pediatric center.Pediatric nephrology (Berlin, Germany) · 2021Article
- Diffuse leiomyomatosis with circumferential thickening of the gastrointestinal wall, resembling human diffuse leiomyomatosis, in a young miniature dachshund.The Journal of veterinary medical science · 2020Article
- Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.European journal of human genetics : EJHG · 2020Article
- Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.Molecular genetics & genomic medicine · 2019Article
- X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.Orphanet journal of rare diseases · 2018Article
- Ocular Manifestations in Patients with Sensorineural Hearing Loss.Journal of ophthalmic & vision researchReview
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the type IV collagen alpha 3-5 chains. Most cases of Alport syndrome are inherited as X-linked dominant, and some as autosomal recessive or autosomal dominant. The primary manifestations are hematuria, proteinuria, and progressive renal failure, whereas some patients present with sensorineural hearing loss and ocular abnormalities. Renin-angiotensin-aldosterone system blockade is proven to delay the onset of renal failure by reducing proteinuria. Renal transplantation is a curative treatment for patients who have progressed to end-stage renal disease. However, only supportive measures can be used to improve hearing loss and visual loss. Although both stem cell therapy and gene therapy aim to repair the basement membrane defects, technical difficulties require more research in Alport mice before clinical studies. Here, we review the renal, auricular, and ocular manifestations and outcomes of Alport syndrome and their current management.
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