ArticleOrphanet journal of rare diseases2018
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Guideline
- 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
- High adherence to angiotensin-converting enzyme inhibitor in children and adolescents with Alport syndrome: objective verification using liquid chromatography-mass spectrometry.Pediatric nephrology (Berlin, Germany) · 2026Article
- The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.International journal of molecular sciences · 2026Article
- Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.Scientific reports · 2025Article
- Explaining Alport syndrome-lessons from the adult nephrology clinic.Journal of rare diseases (Berlin, Germany) · 2024Review
- Clinical profile and molecular genetic analysis of alport syndrome in children: a single center experience.Frontiers in pediatrics · 2024Article
- Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome.Frontiers in genetics · 2024Article
- Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study.Global pediatric health · 2024Article
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.Scientific reports · 2023Article
- The Human Extracellular Matrix Diseasome Reveals Genotype-Phenotype Associations with Clinical Implications for Age-Related Diseases.Biomedicines · 2023Article
- Article
- Last Nucleotide Substitutions ofKidney international reports · 2022Article
- Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.Scientific reports · 2021Article
- 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
- A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome.Matrix biology plus · 2021Article
- Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome.Life (Basel, Switzerland) · 2020Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes.
methodsThe clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed.
resultsAmong the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50-60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function.
conclusionsHearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age.
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