Vol 2 No 5 (2017): IJRDO - Journal of Health Sciences and Nursing
Articles

CLINICAL SYMPTOMS, EFFECTIVE CURE AND HAZARDOUS EFFECTS OF FABRY DISEASE ON HUMAN HEALTH

Sikander Ali
G.C. University, Lahore Pakistan.
Bio
Sania Naeem
G.C. University, Lahore Pakistan.
Bio
Fatima Faisal
G.C. University, Lahore Pakistan.
Bio
Published May 31, 2017
Keywords
  • galctosidase,,
  • lysosomal,,
  • X-linked,
  • pan ethnic,
  • enzyme replacement therapy.
How to Cite
Ali, S., Naeem, S., & Faisal, F. (2017). CLINICAL SYMPTOMS, EFFECTIVE CURE AND HAZARDOUS EFFECTS OF FABRY DISEASE ON HUMAN HEALTH. IJRDO - Journal of Health Sciences and Nursing (ISSN: 2456-298X), 2(5), 91-211. Retrieved from https://ijrdo.org/index.php/hsn/article/view/1020

Abstract

Fabry disease is a lysosomal storage disorder which is caused by the deposition of
globotriaosylceramide (GL-3) due to the deficiency of a-galactosidase A leading to the
change in metabolism. This is a pan ethnic disorder and more frequently present in males
than in females. Children may also have the symptoms of this disease. The major symptoms
of fabry’s disease are pain in body, anaemia, fever, kidney problems, dermatological
symptoms and cardiovascular disease and strokes. The disease can be analysed by the DNA
testing in amniotic cells and chorionic villi and enzyme activity. Atypical variants or
available genetic therapy may complicate the genetic counselling. The disease specific
treatment has been introduced in which recombinant human galactosidase enzyme is used to
investigate the fabry’s disease, this treatment is known as enzyme replacement therapy. Renal
transplantation and dialysis have also been introduced. Analgesic drugs, antiarrhythmic
agents and nephroprotections are used to relieve pain.

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