Sensorineural hearing loss in Alport Syndrome: a systematic review

Hipoacusia neurosensorial en el Síndrome de Alport: una revisión sistemática

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Diana Paola Moscoso Castañeda
Daniel Felipe Moreno Patiño
Abstract

Alport Syndrome (AS) is a genetic disorder originated by mutations in the collagen type IV which is the main constituent of the basal membranes. Clinically, is characterized by progressive hereditary nephropathy. In the inner ear, the collagen IV is ubicated in the basilar membrane and in the spiral ligament, whereby the mutations in the codifier gens, cause neurosensorial hearing loss. The aim of this investigation is to characterize how hearing loss behaves in people diagnosed with AS, by presenting a reviewing of reported studies in the literature. A database search was performed with the established criteria of inclusion and a total of seven articles were incorporated for its analysis. Considering the findings by the several investigations collected the conclusion is that the secondary hearing loss to AS is heterogenous. There is no a common pattern of presentation as it depends on the mode of heredity and the type of mutation of the disease, and besides of the degree of severity and progression that goes along with the renal function. Nevertheless, regardless of the moment that the auditive impair appears, it is of vital importance an opportune audiological intervention, aiming at detecting an alteration as soon as possible, make a rigorous tracking of the auditive functionality and, if necessary, incorporate hearing aids in accordance with the communicative needs of the patients.

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References

Abreu Alves, F., & Quintanilha Quintero, F. (2005). Revision about hearing loss in the Alport’s syndrome, analyzing the clinical, genetic, and bio-molecular aspects. Revista Brasileira de Otorrinolaringología, 71(6), 813-819. doi:10.1016/s1808-8694(15)31253-2 DOI: https://doi.org/10.1016/S1808-8694(15)31253-2

Abreu Alves, F., & Quintanilha Ribeiro, F. (2008). Clinical data and hearing of individuals with Alport Syndrome. Revista Brasileira de Otorrinolaringología, 74(6), 807-814. doi:10.1016/S1808-8694(15)30140-3 DOI: https://doi.org/10.1016/S1808-8694(15)30140-3

Barker, D., Pruchno, C., Jiang, X., Atkin, C., Stone, E., Denison, J., . . . Gregory, M. (1996). A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. The American Journal of Human Genetics, 58(6), 1157-1165. Obtenido de https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1915056/pdf/ajhg00019-0063.pdf

Barozzi, S., Soi, D., Intieri, E., Giani, M., Aldè, M., Tonon, E., . . . Ambrosetti, U. (2020). Vestibular and audiological findings in the Alport Syndrome. American Journal of Medical Genetics, 1-14. doi:10.1002/ajmg.a.61796 DOI: https://doi.org/10.1002/ajmg.a.61796

Bekheirnia, M., Reed, B., Gregory, M., McFann, K., Shamshirsaz, A., Masoumi, A., & Schrier, R. (2010). Genotype – phenotype correlation in X-linked Alport Syndrome. Journal of the American Society of Nephrology, 21(5), 876-883. doi:10.1681/ASN.2009070784 DOI: https://doi.org/10.1681/ASN.2009070784

Beltrán, Ó. (2005). Revisiones sistemáticas de la literatura. Revista Colombiana de Gastroenterología, 20(1), 60-69. Obtenido de https://www.redalyc.org/articulo.oa?id=337729264009

Boeckhaus, J., Strenzke, N., Storz, C., & Gross, O. (2020). Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome. Life, 10(12), 360. doi:10.3390/life10120360 DOI: https://doi.org/10.3390/life10120360

Courville, K., Nuñez Samudio, V., & Landires, I. (2021). Síndrome de Alport: una actualización en fisiopatología, genética, diagnóstico y tratamiento. Revista de Nefrología, Diálisis y Trasplante, 41(1), 72-78. Obtenido de http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S2346-85482021000100081&lng=es&tlng=es.

Hudson, B., Tryggvason, K., Sundaramoorthy, M., & Neilson, E. (2003). Alport’s Syndrome, Goodpasture’s Syndrome, and Type IV Collagen. The New England Journal of Medicine, 348(25), 2543-2556. doi:10.1056/NEJMra022296 DOI: https://doi.org/10.1056/NEJMra022296

Izzedine, H., Tankere, F., Launay-Vacher, V., & Deray, G. (2004). Ear and kidney syndromes: Molecular versus clinical approach. Kidney International, 65(2), 369-385. doi:10.1111/j.1523-1755.2004.00390.x DOI: https://doi.org/10.1111/j.1523-1755.2004.00390.x

Jais, J., Knebelmann, B., Giatras, I., Marchi, M., Rizzoni, G., Renieri, A., . . . Gubler, M. (2004). X-linked Alport syndrome natural history in 195 families and genotype- phenotype correlations in males. Journal of the American Society of Nephrology, 11(4), 649-657. doi:10.1681/ASN.V114649 DOI: https://doi.org/10.1681/ASN.V114649

Kaipa, R., & Tether, H. (2017). Speech, language, and hearing function in twins with Alport syndrome: A seven-year retrospective case report. Journal of Otology, 12(2), 86-96. doi:10.1016/j.joto.2017.03.001 DOI: https://doi.org/10.1016/j.joto.2017.03.001

Kashtan , C. (2020). Alport Syndrome: Achieving Early Diagnosis and Treatment. American Journal of Kidney Diseases, 77(2), 272-279. doi:10.1053/j.ajkd.2020.03.026 DOI: https://doi.org/10.1053/j.ajkd.2020.03.026

Koffler, T., Ushakov, K., & Avraham, K. (2015). Genetics of hearing loss – Syndromic. Otolaryngologic Clinics of North America, 48(6), 1041-1061. doi:10.1016/j.otc.2015.07.007 DOI: https://doi.org/10.1016/j.otc.2015.07.007

Kramer, S., & Brown, D. (2018). Audiology Science to Practice. Third Edition: Plural Publishing Inc.

Kruegel, J., Rubel, D., & Gross, O. (2013). Alport Syndrome - Insights from basic and clinical research. Nature Reviews Nephrology, 9(3), 170-178. doi:10.1038/nrneph.2012.259 DOI: https://doi.org/10.1038/nrneph.2012.259

Manterola, C., Asenjo-Lobos, C., & Otzen, T. (2014). Jerarquización de la evidencia. Niveles de evidencia y grados de recomendación de uso actual. Revista Chilena de Infectología, 31(6), 705-718. doi:10.4067/S0716-10182014000600011 DOI: https://doi.org/10.4067/S0716-10182014000600011

Moon, I., Bang, M., Shim, D., Shin, S., & Choi, J. (2009). Severe to profund hearing lossin patients with progressed Alport’s syndrome. Acta Oto-Laryngologica, 129(9), 982-987. doi:10.1080/00016480802545588 DOI: https://doi.org/10.1080/00016480802545588

Nozu, K., Nakanishi , K., Abe, Y., Udagawa, T., Okada, S., Okamoto, T., . . . Iijima, K. (2019). A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clinical and Experimental Nephrology, 23(2), 158-168. doi:10.1007/s10157-018-1629-4 DOI: https://doi.org/10.1007/s10157-018-1629-4

Ordoñez Ordoñez, L., & Mojica Rojas, A. (2015). Fisiología coclear. Acta de Otorrinolaringología & Cirugía de Cabeza y Cuello, 43(3), 187-210. doi:10.37076/acorl.v43i3.29 DOI: https://doi.org/10.37076/acorl.v43i3.29

Page, M., McKenzie, J., Bossuyt, P., Boutron, I., Hoffmann, T., Mulrow, C., . . . Moher, D. (2021). Declaración PRISMA 2020: Una guía actualizada para la publicación de revisiones sistemáticas. Revista Española de Cardiología, 74(9), 790-799. doi:10.1016/j.recesp.2021.06.016 DOI: https://doi.org/10.1016/j.rec.2021.07.010

Phelan, P., & Rheaul, M. (2018). Hearing loss and renal syndromes. Pediatric Nephrology, 33(10), 1671-1683. doi:10.1007/s00467-017-3835-9 DOI: https://doi.org/10.1007/s00467-017-3835-9

Smith, W., & Ball, S. (2000). Ramipril. International Journal of Clinal Practice, 54(4), 255-260. Obtenido de https://europepmc.org/article/med/10912316 DOI: https://doi.org/10.1111/j.1742-1241.2000.tb11896.x

Thodi, C., Thodis, E., Danielides, V., Pasadakis, P., & Vargemezis, V. (2006). Hearing in renal failure. Nephrology Dialysis Transplantation, 21(11), 3023-3030. doi:10.1093/ndt/gfl472 DOI: https://doi.org/10.1093/ndt/gfl472

Torra, R. (2011). Síndrome de Alport y nefropatía del colágeno IV (alfa 3/alfa 4). Nefrogenética, 2(1), 1-119. doi:10.3265/NefrologiaSuplementoExtraordinario.pre2011.Mar.10904

Veiga De Cabo, J., De La Fuente Díez, E., & Zimmermann Verdejo, M. (2008). Modelos de estudios en investigación clínica: Conceptos y criterios para el diseño. Medicina y Seguridad del Trabajo, 54(210), 81-88. Obtenido de http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0465-546X2008000100011&lng=es&tlng=es DOI: https://doi.org/10.4321/S0465-546X2008000100011

Watson, S., Padala, S., Hashmi, M., & Bush, J. (2020). Alport Syndrome. Treasure Island (FL): StatPearls Publishing.

Zehnder, A., Adams, J., Santi, P., Kristiansen, A., Wacharasindhu, C., Mann, S., . . . Merchant, S. (2005). Distribution of type IV collagen in the cochlea in Alport syndrome. Archives of Otolaryngogy Head and Neck Surgery, 131(11), 1007-1013. doi:10.1001/archotol.131.11.1007 DOI: https://doi.org/10.1001/archotol.131.11.1007

Zhang , X., Zhang, Y., Zhang, Y., Gu , H., Chen, Z., Ren , L., . . . Ding, J. (2018). X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males. Orphanet Journal of Rare Diaseases, 13(1), 229. doi:10.1186/s13023-018-0974-4 DOI: https://doi.org/10.1186/s13023-018-0974-4

Zhang, Y., & Ding, J. (2018). Renal, auricular, and ocular outcomes of Alport syndrome and their current management. Pediatric Nephrology, 33(8), 1309-1316. doi:10.1007/s00467-017-3784-3 DOI: https://doi.org/10.1007/s00467-017-3784-3

Zhao, X., Chen, C., Wei, Y., Zhao, G., Liu, L., Wang, C., . . . Kong, X. (2019). Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique. Molecular Genetics & Genomic Medicine, 7(6), 1-9. doi:10.1002/mgg3.653 DOI: https://doi.org/10.1002/mgg3.653

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