ReviewBrazilian journal of otorhinolaryngology
Revision about hearing loss in the Alport's syndrome, analyzing the clinical, genetic and bio-molecular aspects.
Review in Brazilian journal of otorhinolaryngology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 45 citations in OpenAlex.
- German Clinical Practice Guideline on Microhematuria in Children and Young Adults: Evaluating Early Detection of Kidney Disease.Kidney international reports · 2026Article
- Alport Syndrome-Associated PathogenicInternational journal of genomics · 2026Article
- Screening Biomarkers and Risk Factors for COVID-19 Progression in a Border Population Between Brazil-Bolivia.Biomedical engineering and computational biology · 2025Article
- Identification of common stria vascularis cellular alteration in sensorineural hearing loss based on ScRNA-seq.BMC genomics · 2024Article
- [Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Clinical profile and molecular genetic analysis of alport syndrome in children: a single center experience.Frontiers in pediatrics · 2024Article
- A founderFrontiers in medicine · 2023Article
- Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome.Life (Basel, Switzerland) · 2020Article
- X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.Orphanet journal of rare diseases · 2018Article
- Management of Hematuria in Children.Current treatment options in pediatrics · 2018Article
- [Clinical and pathological features and the misdiagnosis of childhood Alport syndrome: a retrospective analysis of 91 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alport Syndrome is a genetic disorder characterized by hematuria, which often leads to renal failure. It may also be accompanied by extra-renal alterations, such as: sensorineural hearing loss, and ocular abnormalities. Dominant forms related to the X chromosome and caused by mutations in the locus COL4A5 have been described, as well as an autossomic recessive form resulting from mutations in the locus COL4A3 or COL4A4. An autossomic dominant type of AS has also been reported. The disease is caused by changes in the collagen type IV chains, where symptoms reflect the damage to the basal membrane of several organs. The alpha3.alpha4.alpha5(IV) networks are found in the kidneys, cochlea and eyes. The objective was to characterize AS in this group of patients. In the current literature review it was found that: 1. AS is characterized by hematuria that may develop into renal failure and can also be accompanied by extra-renal manifestations. Hearing loss is a frequent extra-renal finding and one of the first symptoms of AS, therefore representing a relevant factor in the prognosis of the renal disease; 2. It is a genetic disorder resulting from abnormalities in the chains of collagen type IV in the basal membranes; 3. The hearing loss in AS is typically sensorineural with variable intensities, progressive and symmetrical, affecting middle and high frequencies; 4. Otolaryngologists should include a urine test in the SNHL work-up. It is essential to have an otologist involved in the treatment of these patients.
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