Araştırma Makalesi
Yıl 2023,
Cilt: 5 Sayı: 2, 84 - 91, 29.04.2023
Öz
Kaynakça
- Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol. 2002 Jun;13(Suppl 2):S134-8. doi: 10.1097/01.ASN.0000016684.07368.75. Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S134-8.
- Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol. 2017 May;28(5):1631-41. doi: 10.1681/ASN.2016090964.
- Curiati MA, Aranda CS, Kyosen SO, Varela P. The challenge of diagnosis and indication for treatment in Fabry disease. J Inborn Errors Metab Screen. 2017;5:1-7. doi: 10.1177/2326409816685735.
- Hsu TR, Niu DM. Fabry disease: Review and experience during newborn screening. Trends Cardiovasc Med. 2018 May;28(4):274-281. doi: 10.1016/j.tcm.2017.10.001.
- Calderón Sandubete EJ, Briones Pérez de la Blanca E, Alonso-Ortiz Del Río C, Santamaría Olmo R, López Mendoza M, Barcos Martínez M, Márquez Infante C, Marín-León I; en nombre del Grupo Guía Fabry. Spanish multidisciplinary clinical practice guidelines for Anderson-Fabry Disease in adults. I. Method and recommendations. Rev Clin Esp (Barc). 2019 May;219(4):200-207. English, Spanish. doi: 10.1016/j.rce.2018.09.017.
- Lidove O, Kaminsky P, Hachulla E, Leguy-Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; FIMeD investigators. Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD). Clin Genet. 2012 Jun;81(6):571-7. doi: 10.1111/j.1399-0004.2011.01718.x.
- Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013 Oct;22(5):555-64. doi: 10.1007/s10897-013-9613-3.
- Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006 Jul;79(1):31-40. doi: 10.1086/504601.
- Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013.
- Oruç A, Yildiz A, Akgur S, Unsal O, Aydın MF, Ersoy A, Yavuz M, Dilek K, Gullulu M. Screening for Fabry disease in patients who underwent renal biopsy and identification of a novel mutation. Turkish journal of nephrology. 2021 Apr;30(2):165-70. doi: 10.5152/turkjnephrol.2021.4709.
- Turkmen K, Guclu A, Sahin G, Kocyigit I, Demirtas L, Erdur FM, Sengül E, Ozkan O, Emre H, Turgut F, Unal H, Karaman M, Acıkel C, Esen H, Balli E, Bıtırgen G, Tonbul HZ, Yılmaz MI, Ortiz A. The prevalence of Fabry disease in patients with chronic kidney disease in Turkey: The TURKFAB study. Kidney Blood Press Res. 2016;41(6):1016-24. doi: 10.1159/000452605.
- Germain DP, Avan P, Chassaing A, Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet. 2002 Oct 11;3:10. doi: 10.1186/1471-2350-3-10.
- Hegemann S, Hajioff D, Conti G, Beck M, Sunder-Plassmann G, Widmer U, Mehta A, Keilmann A. Hearing loss in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest. 2006 Sep;36(9):654-62. doi: 10.1111/j.1365-2362.2006.01702.x.
- Sergi B, Conti G, Paludetti G; Interdisciplinary Study Group On Fabry Disease. Inner ear involvement in Anderson-Fabry disease: long-term follow-up during enzyme replacement therapy. Acta Otorhinolaryngol Ital. 2010 Apr;30(2):87-93.
- Köping M, Shehata-Dieler W, Schneider D, Cebulla M, Oder D, Müntze J, Nordbeck P, Wanner C, Hagen R, Schraven SP. Characterization of vertigo and hearing loss in patients with Fabry disease. Orphanet J Rare Dis. 2018 Aug 15;13(1):137. doi: 10.1186/s13023-018-0882-7.
- Bitirgen G, Turkmen K, Malik RA, Ozkagnici A, Zengin N. Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease. Sci Rep. 2018 Aug 16;8(1):12244. doi: 10.1038/s41598-018-30688-z.
- Palla A, Hegemann S, Widmer U, Straumann D. Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy. J Neurol. 2007 Oct;254(10):1433-42. doi: 10.1007/s00415-007-0575-y.
Yıl 2023,
Cilt: 5 Sayı: 2, 84 - 91, 29.04.2023
Öz
Background Hearing and the auditory pathway are affected in Fabry diseases (FD). There is limited data on hearing and auditory pathways in this population. Therefore, we aimed to investigate auditory functions and auditory pathways using auditory brainstem responses (ABR), otoacoustic distortion emission (DPOAE), pure tone audiometry (PTA), and tympanometry in patients with FD and to compare these results with those of healthy individuals.
Material and Methods This study included 16 patients with FD (F/M: 8/8, age: 33.5±15.4 years) and 16 healthy controls (F/M: 5/11, age: 33.6±6.3 years). Hearing functions and auditory pathways were assessed with ABR, DPOAE, PTA, and tympanometry.
Results According to the results of PTA, conductive hearing loss was detected in 4 (25%) of the patients with FD. When the 500-4,000 Hz frequencies were assessed, the bone pathway hearing threshold in both ears was significantly higher in the patients with FD than in the control group (p=0.014 and p=0.014, respectively). When we compared the DPOAE measurements of the patients with FD and the control groups, the dB value measured at 2.8 kHz was significantly lower in the patient group than in the control group (p=0.018). When we compared the ABR measurements, the right ear's 3-5 interpeak latency at 60 dB was significantly lower in the patient with FD than in the control group (1.8±0.3 ms vs 2±0.2 ms, p=0.033).
Conclusions We found that the hearing loss rate and hearing threshold were statistically significantly higher in FD patients than in the control group. Hearing screening should be systematically performed in these patients.
Anahtar Kelimeler
Kaynakça
- Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol. 2002 Jun;13(Suppl 2):S134-8. doi: 10.1097/01.ASN.0000016684.07368.75. Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S134-8.
- Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol. 2017 May;28(5):1631-41. doi: 10.1681/ASN.2016090964.
- Curiati MA, Aranda CS, Kyosen SO, Varela P. The challenge of diagnosis and indication for treatment in Fabry disease. J Inborn Errors Metab Screen. 2017;5:1-7. doi: 10.1177/2326409816685735.
- Hsu TR, Niu DM. Fabry disease: Review and experience during newborn screening. Trends Cardiovasc Med. 2018 May;28(4):274-281. doi: 10.1016/j.tcm.2017.10.001.
- Calderón Sandubete EJ, Briones Pérez de la Blanca E, Alonso-Ortiz Del Río C, Santamaría Olmo R, López Mendoza M, Barcos Martínez M, Márquez Infante C, Marín-León I; en nombre del Grupo Guía Fabry. Spanish multidisciplinary clinical practice guidelines for Anderson-Fabry Disease in adults. I. Method and recommendations. Rev Clin Esp (Barc). 2019 May;219(4):200-207. English, Spanish. doi: 10.1016/j.rce.2018.09.017.
- Lidove O, Kaminsky P, Hachulla E, Leguy-Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; FIMeD investigators. Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD). Clin Genet. 2012 Jun;81(6):571-7. doi: 10.1111/j.1399-0004.2011.01718.x.
- Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013 Oct;22(5):555-64. doi: 10.1007/s10897-013-9613-3.
- Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006 Jul;79(1):31-40. doi: 10.1086/504601.
- Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013.
- Oruç A, Yildiz A, Akgur S, Unsal O, Aydın MF, Ersoy A, Yavuz M, Dilek K, Gullulu M. Screening for Fabry disease in patients who underwent renal biopsy and identification of a novel mutation. Turkish journal of nephrology. 2021 Apr;30(2):165-70. doi: 10.5152/turkjnephrol.2021.4709.
- Turkmen K, Guclu A, Sahin G, Kocyigit I, Demirtas L, Erdur FM, Sengül E, Ozkan O, Emre H, Turgut F, Unal H, Karaman M, Acıkel C, Esen H, Balli E, Bıtırgen G, Tonbul HZ, Yılmaz MI, Ortiz A. The prevalence of Fabry disease in patients with chronic kidney disease in Turkey: The TURKFAB study. Kidney Blood Press Res. 2016;41(6):1016-24. doi: 10.1159/000452605.
- Germain DP, Avan P, Chassaing A, Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet. 2002 Oct 11;3:10. doi: 10.1186/1471-2350-3-10.
- Hegemann S, Hajioff D, Conti G, Beck M, Sunder-Plassmann G, Widmer U, Mehta A, Keilmann A. Hearing loss in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest. 2006 Sep;36(9):654-62. doi: 10.1111/j.1365-2362.2006.01702.x.
- Sergi B, Conti G, Paludetti G; Interdisciplinary Study Group On Fabry Disease. Inner ear involvement in Anderson-Fabry disease: long-term follow-up during enzyme replacement therapy. Acta Otorhinolaryngol Ital. 2010 Apr;30(2):87-93.
- Köping M, Shehata-Dieler W, Schneider D, Cebulla M, Oder D, Müntze J, Nordbeck P, Wanner C, Hagen R, Schraven SP. Characterization of vertigo and hearing loss in patients with Fabry disease. Orphanet J Rare Dis. 2018 Aug 15;13(1):137. doi: 10.1186/s13023-018-0882-7.
- Bitirgen G, Turkmen K, Malik RA, Ozkagnici A, Zengin N. Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease. Sci Rep. 2018 Aug 16;8(1):12244. doi: 10.1038/s41598-018-30688-z.
- Palla A, Hegemann S, Widmer U, Straumann D. Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy. J Neurol. 2007 Oct;254(10):1433-42. doi: 10.1007/s00415-007-0575-y.
Toplam 17 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | İç Hastalıkları |
| Bölüm | Original Articles |
| Yazarlar | |
| Yayımlanma Tarihi | 29 Nisan 2023 |
| Gönderilme Tarihi | 25 Kasım 2022 |
| Kabul Tarihi | 29 Ocak 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 5 Sayı: 2 |
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