BibTex RIS Kaynak Göster

Fabry Disease

Yıl 2013, Cilt: 22 Sayı: 1, 142 - 152, 01.03.2013

Öz

Fabry's disease is a X linked Lysosomal storage disorder caused by a defect in α-galactosidase enzyme. This defect causes accumulation of lipids progressively in the vasculature and internal organs resulting in multiple complications and life threatening situation. It is characterized by pain, neurological, gastrointestinal, renal, cardiovascular, dermatological, rheumatological and oral manifestations. This review renders the pathophysiology, clinical features, diagnostic criteria's, differential diagnosis and management. This review also portrays the recent advancements that have been proposed for the management for this disorder.

Kaynakça

  • Understanding Fabry disease. http:// www.aakp.org/ userfiles/ file /Fabry%20Disease%20Brochure.pdf. (Accessed: Aug 11, 2012).
  • Fabry disease. A Lysosomal Storage Disorder Characterized by α-Galactosidase A Deficiency. http://www.fabrycommunity.com/~/media/Files/Fabry/PDF/FabrUSP006_0608_Fabry_Disease _Monograph.pdf. (Accessed: Aug 11, 2012).
  • Fabry Disease: Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy in Canada. http://www.garrod.ca/data/attachments/CanadianFabryGuidelinesNov05.pdf. (Accessed: Aug 11, 2012).
  • Fabry disease. http://en.wikipedia.org/wiki/Fabry_disease. (Accessed: Aug 11, 2012). Scheinfeld NS. Angiokeratoma corporis diffusum. http://emedicine.medscape.com/ article/1102964-clinical#a0217. (Accessed: Aug 11, 2012).
  • Mehta A. New developments in the management of Anderson-Fabry Disease. QJ Med. 2002; 95:647-53.
  • Gorlin RJ, Cohen MM, Hennekam. Syndromes of Head and Neck,4th Ed. New York, Oxford University Press, 2001.
  • Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006; 8:539-48.
  • Hughes DA, U. Ramaswam U, Deegan PEP, Lee P, Waldek S, Apperley G. Guidelines for the Diagnosis and Management of Anderson-Fabry Disease http://www.dh.gov.uk/ prod_consum_dh/groups/dh_digitalassets/@dh/@en/documents/digitalasset/dh_4118408.pdf . (Accessed: Aug 11, 2012)
  • Beck M. Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opin Biol Ther. 2009; 9:255-61.
  • Warnock DG. Fabry disease: diagnosis and management, with emphasis on the renal manifestations. Curr Opin Nephrol Hypertens. 2005;14:87-95.

Fabry Hastalığı

Yıl 2013, Cilt: 22 Sayı: 1, 142 - 152, 01.03.2013

Öz

Fabry hastalığı α-galactosidaz enzimindeki bir eksiklikten kaynaklanan X’e bağlı bir lizozomal depo hastalığıdır. Bu enzim eksikliği damar sistemi ve iç organlarda lipid birikiminde yol açarak hastayı çoğul komplikasyonlar ve yaşamı tehdit edici bir duruma sürükler. Hastalık ağrı, nörolojik, gastrointestinal, romatolojik ve ağızla ilgili belirtilerle karakterizedir. Bu yazıda Fabry hastalığının patofizyolojisi, klinik özellikleri, ayırıcı tanısı ve yönetimi gözden geçirilmiştir. Bunların yanısıra hastalığı tedavisindeki son gelişmelere de vurgu yapılmıştır.

Kaynakça

  • Understanding Fabry disease. http:// www.aakp.org/ userfiles/ file /Fabry%20Disease%20Brochure.pdf. (Accessed: Aug 11, 2012).
  • Fabry disease. A Lysosomal Storage Disorder Characterized by α-Galactosidase A Deficiency. http://www.fabrycommunity.com/~/media/Files/Fabry/PDF/FabrUSP006_0608_Fabry_Disease _Monograph.pdf. (Accessed: Aug 11, 2012).
  • Fabry Disease: Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy in Canada. http://www.garrod.ca/data/attachments/CanadianFabryGuidelinesNov05.pdf. (Accessed: Aug 11, 2012).
  • Fabry disease. http://en.wikipedia.org/wiki/Fabry_disease. (Accessed: Aug 11, 2012). Scheinfeld NS. Angiokeratoma corporis diffusum. http://emedicine.medscape.com/ article/1102964-clinical#a0217. (Accessed: Aug 11, 2012).
  • Mehta A. New developments in the management of Anderson-Fabry Disease. QJ Med. 2002; 95:647-53.
  • Gorlin RJ, Cohen MM, Hennekam. Syndromes of Head and Neck,4th Ed. New York, Oxford University Press, 2001.
  • Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006; 8:539-48.
  • Hughes DA, U. Ramaswam U, Deegan PEP, Lee P, Waldek S, Apperley G. Guidelines for the Diagnosis and Management of Anderson-Fabry Disease http://www.dh.gov.uk/ prod_consum_dh/groups/dh_digitalassets/@dh/@en/documents/digitalasset/dh_4118408.pdf . (Accessed: Aug 11, 2012)
  • Beck M. Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opin Biol Ther. 2009; 9:255-61.
  • Warnock DG. Fabry disease: diagnosis and management, with emphasis on the renal manifestations. Curr Opin Nephrol Hypertens. 2005;14:87-95.
Toplam 10 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Derleme
Yazarlar

Ramachandran Sudarshan Bu kişi benim

G Sree Vijayabala Bu kişi benim

Yayımlanma Tarihi 1 Mart 2013
Yayımlandığı Sayı Yıl 2013 Cilt: 22 Sayı: 1

Kaynak Göster

AMA Sudarshan R, Vijayabala GS. Fabry Hastalığı. aktd. Mart 2013;22(1):142-152.