Clinical data and hearing of individuals with Alport syndrome

Alves, Fatima Regina Abreu; Ribeiro, Fernando de Andrade Quintanilha

doi:10.1016/s1808-8694(15)30140-3

Cited by 10 publications

(8 citation statements)

References 12 publications

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“…Other authors have reported an association between hearing loss and renal involvement (Alves & Quintanilha Ribeiro, 2008;Zhang et al, 2018) and considered the hearing loss a risk factor for developing renal failure (Zhang et al, 2018). In our sample we did not find a clear relationship between hearing and renal impairment.…”

Section: Discussioncontrasting

confidence: 86%

“…Hearing impairment occurred before or in the absence of renal failure and thus is more likely to have originated from a defect in cochlear basement membranes than renal impairment, as already pointed out by other authors. (Alves & Quintanilha Ribeiro, 2008;Hudson et al, 2003).…”

Section: Discussionmentioning

confidence: 99%

“…Severity: hearing loss was divided into four categories: mild (20-40 dB HL), moderate (41-60 dB HL), severe (61-90 dB HL) and profound (>91 dB HL). Configuration: the audiometric curves were defined as flat, descending at high frequencies, ascending and U type (Alves & Quintanilha Ribeiro, 2008). Symmetry: a 15 dB difference between the ears at at least two frequencies or a 10 dB difference at four frequencies defined an asymmetrical hearing loss (Alves & Quintanilha Ribeiro, 2008).…”

Section: Pure Tone Audiometrymentioning

confidence: 99%

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Vestibular and audiological findings in the Alport syndrome

Barozzi

Soi

Intieri

et al. 2020

American J of Med Genetics Pt A

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Alport syndrome (AS) is caused by mutations in collagen IV, which is widespread in the basement membranes of many organs, including the kidneys, eyes, and ears. Whereas the effects of collagen IV changes in the cochlea are well known, no changes have been described in the posterior labyrinth. The aim of this study was to investigate both the auditory and the vestibular function of a group of individuals with AS. Seventeen patients, aged 9–52, underwent audiological tests including pure‐tone and speech audiometry, immittance test and otoacoustic emissions and vestibular tests including video head impulse test, rotatory test, and vestibular evoked myogenic potentials. Hearing loss affected 25% of the males and 27.3% of the females with X‐linked AS. It was sensorineural with a cochlear localization and a variable severity. 50% of the males and 45.4% of the females had a hearing impairment in the high‐frequency range. Otoacoustic emissions were absent in about one‐third of the individuals. A peripheral vestibular dysfunction was present in 75% of the males and 45.4% of the females, with no complaints of vertigo or dizziness. The vestibular impairment was compensated and the vestibulo‐ocular reflex asymmetry was more evident in rotatory tests carried out at lower than higher speeds; a vestibular hypofunction was present in all hearing impaired ears although it was also found in subjects with normal hearing. A posterior labyrinth injury should be hypothesized in AS even when the patient does not manifest hearing disorders or evident signs of renal failure.

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Section: Discussioncontrasting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Pure Tone Audiometrymentioning

confidence: 99%

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Vestibular and audiological findings in the Alport syndrome

Barozzi

Soi

Intieri

et al. 2020

American J of Med Genetics Pt A

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“…We found that the patient’s platelet volume was low, but she did not have thrombocytopenia. Since some of the features of AS [16], [17] and patients with MYH9 mutations overlap, it is possible that this patient disease phenotype is a result of interactions between these two genes. No other family members had all three mutations suggesting that only collectively they are penetrant.…”

Section: Discussionmentioning

confidence: 99%

Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

et al. 2013

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We applied customized targeted next-generation exome sequencing (NGS) to determine if mutations in genes associated with renal malformations, Alport syndrome (AS) or nephrotic syndrome are a potential cause of renal abnormalities in patients with equivocal or atypical presentation. We first sequenced 4,041 exons representing 292 kidney disease genes in a Caucasian woman with a history of congenital vesicoureteral reflux (VUR), recurrent urinary tract infections and hydronephrosis who presented with nephrotic range proteinuria at the age of 45. Her biopsy was remarkable for focal segmental glomerulosclerosis (FSGS), a potential complication of longstanding VUR. She had no family history of renal disease. Her proteinuria improved initially, however, several years later she presented with worsening proteinuria and microhematuria. NGS analysis revealed two deleterious COL4A3 mutations, one novel and the other previously reported in AS, and a novel deleterious SALL2 mutation, a gene linked to renal malformations. Pedigree analysis confirmed that COL4A3 mutations were nonallelic and compound heterozygous. The genomic results in conjunction with subsequent abnormal electron microscopy, Collagen IV minor chain immunohistochemistry and progressive sensorineural hearing loss confirmed AS. We then modified our NGS approach to enable more efficient discovery of variants associated with AS or a subset of FSGS by multiplexing targeted exome sequencing of 19 genes associated with AS or FSGS in 14 patients. Using this approach, we found novel or known COL4A3 or COL4A5 mutations in a subset of patients with clinically diagnosed or suspected AS, APOL1 variants associated with FSGS in African Americans and novel mutations in genes associated with nephrotic syndrome. These studies demonstrate the successful application of targeted capture-based exome sequencing to simultaneously evaluate genetic variations in many genes in patients with complex renal phenotypes and provide insights into etiology of conditions with equivocal clinical and pathologic presentations.

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“…Symmetrical hearing loss was present if the difference in hearing loss at the same frequency in both ears was less than 15 dB. The audiometric curves included ascending-type, groove-type, descending-type, flat-type, and high frequency steep drop-type [26]. 0.25 kHz and 0.5 kHz are considered as low frequencies, 1 kHz and 2 kHz are middle frequencies, and 4 kHz and8kHz are high frequencies.…”

Section: Methodsmentioning

confidence: 99%

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

Zhang

et al. 2018

Orphanet J Rare Dis

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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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Clinical data and hearing of individuals with Alport syndrome

Cited by 10 publications

References 12 publications

Vestibular and audiological findings in the Alport syndrome

Vestibular and audiological findings in the Alport syndrome

Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

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