Perfil audiométrico em homens com síndrome de Alport
DOI:
https://doi.org/10.34631/sporl.18Keywords:
Alport’s syndrome, male, sensorineural hearing loss, renal failureAbstract
Objectives: Alport’s syndrome (AS) is a hereditary nephritis associated with hematuria, progressive renal failure, high tone sensorineural deafness, and characteristic eye signs. This study analyzes the audiometric profile in male subjects with diagnosis of Alport Syndrome and correlates hearing loss to renal function.
Study Design: Transversal retrospective study
Material and Methods: Analysis of clinical data of male subjects with clinical and molecular diagnosis of Alport Syndrome.
Results: The sample is composed for seven male patients diagnosed with Alport’s Syndrome and whose molecular analysis showed pathogenic mutations of the COL4A5 gene. All patients had hematuria as the initial manifestation and 71% (n = 5) had complaints of hearing loss. Hearing loss occurred predominantly at high frequencies, between 2000 and 8000 Hz.
Conclusions: This study showed an association between the deterioration of renal function and hearing loss, preferentially at high frequencies. The demonstration of sensorineural hearing loss is an important aspect in the clinical diagnosis of Alport’s Syndrome and may be crucial to the decision to proceed to mutational genetic study.
References
- Alport AC: Hereditary familial congenital haemorrhagic nephritis. Br Med J. 1927 Mar 19;1(3454):504-6.
-Sohar E: A heredo-familial syndrome characterized by renal disease, inner ear deafness, and ocular changes. Harefuah. 1954 Oct 15;47(8):161-2.
- Rumpelt HJ: Hereditary nephropathy (Alport syndrome): Correlation of clinical data with glomerular basement membrane alterations. Clin Nephrol. 1980 May;13(5):203-7.
-Hanson H: The Value of Clinical Criteria in Identifying Patients with X-Linked Alport Syndrome. Clin J Am Soc Nephrol. 2011 Jan;6(1):198-203.
- Alves F: Dados clínicos e da audição em indivíduos com Síndrome de Alport. Rev Bras Otorrinolaringol. 2008;74(6):807-14.
- Kalluri R. Basement membranes: structure, assembly and role in tumor angiogenesis. Nat Rev Cancer. 2003 Jun;3(6):422-33.
- Alves F: Revisão sobre a perda auditiva na Síndrome de Alport, analisando os aspectos clínicos, genéticos e biomoleculares. Rev Bras Otorrinolaringol. 2005;71(6):813-9.
- Atkin CL, Gregory MC, Border WA. Alport syndrome. In: Schrier WW, Gottschalk CW. Diseases of the kidney. 4thed., Boston, Little, Brown, 1988. pp.617-641.
-Rigden SP, Mehls O, Jones EH, Valderrábano F. Report on management of renal failure in Europe, XXVI: 1995. The child–adult interface: A report on Alport’s syndrome, 1975–1993. The ERA-EDTA Registry. Nephrol Dial Transplant. 1996;11 Suppl 7:21-7.
- Flinter FA, Cameron JS, Chantler C, Houston I, et al. Genetics of classic Alport’s syndrome. Lancet. 1988 Oct 29;2(8618):1005-7.
- Pirson Y. Making the diagnosis of Alport´s syndrome. Kidney Int. 1999 Aug;56(2):760-75.
- Gubler MC, Heideta L, Antignac C. Syndrome d’Alport ou néphropathie héréditaire hématurique progressive avec surdité. Nephrol Ther. 2007 Jun;3(3):113-20.
- Gubler MC, Antignac C, Deschênes G, Knebelmann B, et al. Hétérogénéité génétique, Clinique et morphologique dans le syndrome d’Alport. Actualités Néphrologiques. Paris, Flammarion Médecine– Sciences; 1992. pp.15–33.
- Parving A, Newton V. Guidelines for description of inherited hearing loss. J Audiol Med 1995;4:2-5.
- Wester DC, Atkin CL, Gregory MC. Alport syndrome: clinical update. J Am Acad Audiol. 1995 Jan;6(1):73-9.
