Management of Neuropathic Pain in Fabry Disease
Yıl: 2016 Cilt: 33 Sayı: 1 Sayfa Aralığı: 12 - 19 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022
Management of Neuropathic Pain in Fabry Disease
Öz: Amaç: Bu çalışmada bizim amacımız, bilgimize göre şuana kadar yapılmamış, Fabry hastalığında Lanss ve DN4 skorlarının tanısal değerlerini araştırmaktır. Gereç ve Metod: Bu çalışmaya yaşları 8 ile 51 arasında olan 18 hasta kabul edildi. Fabry tanısı mutasyon analizi ile doğrulandı. Beck depresyon ölçeği, pittsburg uyku kalite indeksi, yorgunluk şiddet skalası ve yaşam kalite formunun hem fiziksel hem mental komponenti testleri uygulandı. Ayrıca biz bu testlerin takibini yaptık. Bulgular: Enzim replasman tedavisinden önce ve sonra her iki aylık periyotlarda ağrı skoru (Hastalar her iki haftada bir enzim replasman tedavisi aldı) tedavinin 10 aylık döneminde geriledi ve bu istatistiksel olarak anlamlı idi (p=0,001). Ayrıca benzer sonuçlar, yaşam kalite skorunda düzelme ve depresyon, uyku kalite, yorgunlukta azalma olarak elde edildi (p<0,001). Sonuç: Lanss ve DN4 skorları Fabry hastalığındaki nöropatik ağrının hem tanı hem de izlenmesinde güvenilir gibi görünüyor. Bu çalışmada enzim replasman tedavisinin ağrı skorları üzerine terapotik etkisi bu çalışmanın bir başka önemli noktasıdır. Ağrı ve yaşam kalite skorlarının hem enzim replasman tedavisi öncesi hem de sonrasında yapılması, bu tedavinin Fabry hastalığındaki nöropatik ağrıda etkili olduğunu göstermiştir
Anahtar Kelime: Konular:
Fabry Hastalarındaki Nöropatik Ağrının Yönetimi
Öz: Aims: The goal was to investigate the diagnostic yield of Lanss and DN4 scores which have not been used in Fabry Disease until now, to our knowledge. Material and Methods: Eighteen patients aged between 8 and 51 years were enrolled in this study. The diagnosis of Fabry was confirmed by mutation analysis. We also kept track of these tests in the followup. Besides, Beck Depression scale, Pıttsburgh Sleep Quality Index, Fatigue Severity Scale and both physical and mental components of Short Form Health Survey were performed. Results: The pain scores before and after each and every two months of enzyme replacement therapies (the patients received enzyme replacement therapies every two weeks) regressed during ten months of therapy and this regression was statistically significant (p=0.001). Similar results were also obtained for depression, sleep quality, fatigue reduction and improvement in health survey scores (p<0.001). Conclusion: Lanss and DN4 scores seem to be reliable both in diagnosis and monitoring of neuropathic pain in Fabry disease. Another important point that this study yields is the therapeutic impact of enzyme replacement therapies on pain scores. The pain and life quality scores before and after enzyme replacement therapies show that, this therapy is effective in neuropathic pain of Fabry disease
Anahtar Kelime: Konular:
Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
- Bouwman MG, Maurice-Stam H, Linthorst GE, Hollak CE, Wijburg FA, Grootenhuis MA. Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life. Mol Genet Metab 2011;104:308- 13.
- Burlina AP, Sims KB, Politei JM, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol 2011;11:61
- Desnick R, Loannou Y, Eng C. Alpha- Galactosidase A deficiency: Fabry disease. In: Scriver CR BA, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001. p. 3733-74.
- Desnick R, Brady R. Fabry disease in childhood. J Pediatr 2004;144:20-6.
- Dütsch M, Hilz MJ. Neurological complications in Fabry disease. Rev Med İnterne 2010;31:243-50 (abstract).
- Franceschi F, Gigante G, Roccarina D. Fabry disease and small intestinal bacterial overgrowth: prevalence and correlation wıth gastrointestinal symptoms. Digest Liver Dis 2008;40:1-195 (abstract).
- Giannini EH, Mehta AB, Hilz MJ, et al. A validated disease severity scoring system for Fabry disease. Mol Genet Metab 2010;99:283- 90.
- Gold KF, Pastores GM, Botteman MF, et al. Quality of life of patients with Fabry disease. Qual Life Res 2002;11:317-27.
- Hilz MJ, Brys M, Marthol H, Stemper B, Dütsch M. Enzyme replacement therapy improves function of C-, A delta-, and Abeta- nerve fibers in Fabry neuropathy. Neurology 2004;13;62:1066-72.
- Laaksonen SM, Roytta M, Satu KJ, Kantola I, Penttinen M, Falck B. Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol 2008;119:1365-72.
- Linthorst GE, Germain DP, Hollak CEM, et al. Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab 2011;102:99-102.
- Maag R, Binder A, Baron R. Assessment of Pain and Somatosensory Function in Fabry Disease: Early Diagnosis. Clin Ther 2008;30:52-3.
- MacDermot J, MacDermot KD. Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Europ J Pharma 2001;429:121-5.
- Ries M, Mengel E, Kutschke G, et al. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis 2003;26:413-4.
- Schaik IV, Hollak CEM. Fabry Disease: A Rare Cause of Neuropathic Pain. Curr Pain Headache Rep 2013;17:365.
- Schiffmann R, Moore DF. Neurological manifestations of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. p. 22.
- Sommer C, Uceyler N, Duning T, et al. Pain therapy for Fabry's disease. Internist 2013;54:121-2.
- Watt T, Burlina AP, Cazzorla C, et al. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med 2010;12:703-12.
- Weidemann F, Krämer J, Duning T, et al. Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch. J Am Soc Nephrol 2014;25:837-49.
- Whybra C, Miebach E, Mengel E, et al. A 4- year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med 2009;11:441-9.
| APA | TÜRKER H, AKPINAR Ç, CENGİZ K, BAYRAK A, Ogur G (2016). Management of Neuropathic Pain in Fabry Disease. , 12 - 19. |
| Chicago | TÜRKER Hande,AKPINAR Çetin Kürşad,CENGİZ Kuddusi,BAYRAK Ayşe Oytun,Ogur Gonul Management of Neuropathic Pain in Fabry Disease. (2016): 12 - 19. |
| MLA | TÜRKER Hande,AKPINAR Çetin Kürşad,CENGİZ Kuddusi,BAYRAK Ayşe Oytun,Ogur Gonul Management of Neuropathic Pain in Fabry Disease. , 2016, ss.12 - 19. |
| AMA | TÜRKER H,AKPINAR Ç,CENGİZ K,BAYRAK A,Ogur G Management of Neuropathic Pain in Fabry Disease. . 2016; 12 - 19. |
| Vancouver | TÜRKER H,AKPINAR Ç,CENGİZ K,BAYRAK A,Ogur G Management of Neuropathic Pain in Fabry Disease. . 2016; 12 - 19. |
| IEEE | TÜRKER H,AKPINAR Ç,CENGİZ K,BAYRAK A,Ogur G "Management of Neuropathic Pain in Fabry Disease." , ss.12 - 19, 2016. |
| ISNAD | TÜRKER, Hande vd. "Management of Neuropathic Pain in Fabry Disease". (2016), 12-19. |
| APA | TÜRKER H, AKPINAR Ç, CENGİZ K, BAYRAK A, Ogur G (2016). Management of Neuropathic Pain in Fabry Disease. Journal of Neurological Sciences (Turkish), 33(1), 12 - 19. |
| Chicago | TÜRKER Hande,AKPINAR Çetin Kürşad,CENGİZ Kuddusi,BAYRAK Ayşe Oytun,Ogur Gonul Management of Neuropathic Pain in Fabry Disease. Journal of Neurological Sciences (Turkish) 33, no.1 (2016): 12 - 19. |
| MLA | TÜRKER Hande,AKPINAR Çetin Kürşad,CENGİZ Kuddusi,BAYRAK Ayşe Oytun,Ogur Gonul Management of Neuropathic Pain in Fabry Disease. Journal of Neurological Sciences (Turkish), vol.33, no.1, 2016, ss.12 - 19. |
| AMA | TÜRKER H,AKPINAR Ç,CENGİZ K,BAYRAK A,Ogur G Management of Neuropathic Pain in Fabry Disease. Journal of Neurological Sciences (Turkish). 2016; 33(1): 12 - 19. |
| Vancouver | TÜRKER H,AKPINAR Ç,CENGİZ K,BAYRAK A,Ogur G Management of Neuropathic Pain in Fabry Disease. Journal of Neurological Sciences (Turkish). 2016; 33(1): 12 - 19. |
| IEEE | TÜRKER H,AKPINAR Ç,CENGİZ K,BAYRAK A,Ogur G "Management of Neuropathic Pain in Fabry Disease." Journal of Neurological Sciences (Turkish), 33, ss.12 - 19, 2016. |
| ISNAD | TÜRKER, Hande vd. "Management of Neuropathic Pain in Fabry Disease". Journal of Neurological Sciences (Turkish) 33/1 (2016), 12-19. |
