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Fabry kidney disease
Joint Authors
Moran, Veronica
Obrador, Gregorio T.
Thadhani, Ravi
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 14, Issue 3 (30 Jun. 2003), pp.367-377, 11 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2003-06-30
Country of Publication
Saudi Arabia
No. of Pages
11
Main Subjects
Topics
Abstract EN
Fabry disease (FD), the second most common type of lysosomal storage disease (LSD), is one of 41 disorders characterized by accumulation of substances normally degraded within lysosomes.
It is an X-linked recessive disorder characterized by a deficiency of lysosomal alpha-galactosidase A (α-Gal A).
The locus for human α-Gal A is located on the Xq22 chromosome.
Most FD mutations are confined to a single family.
Although FD is an X-linked disorder, up to one third of female carriers develop clinical manifestations of the disease.
It typically presents during infancy or adolescence with crisis of neuropathic pain (acroparesthesia), angiokeratomas, and asymptomatic corneal lesions.
As Gb3 deposition progresses, clinical manifestations occur in other organs.
Patients typically die in the fourth or fifth decade of life due to cardiac, renal or cerebrovascular complications.
Usually, there is diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, interstitium, and vasculature.
Clinically, the renal disease manifests with hypertension, microscopic hematuria (rare), moderate proteinuria, which can be in the nephrotic range, and lapidarian.
End-stage renal disease can be treated with either dialysis or transplantation.
The gene for α-Gal A was cloned and sequenced, which eventually led to production of enzyme for therapeutic use by either recombinant DNA technology or gene activation.
American Psychological Association (APA)
Moran, Veronica& Obrador, Gregorio T.& Thadhani, Ravi. 2003. Fabry kidney disease. Saudi Journal of Kidney Diseases and Transplantation،Vol. 14, no. 3, pp.367-377.
https://search.emarefa.net/detail/BIM-60425
Modern Language Association (MLA)
Moran, Veronica…[et al.]. Fabry kidney disease. Saudi Journal of Kidney Diseases and Transplantation Vol. 14, no. 3 (Aug. 2003), pp.367-377.
https://search.emarefa.net/detail/BIM-60425
American Medical Association (AMA)
Moran, Veronica& Obrador, Gregorio T.& Thadhani, Ravi. Fabry kidney disease. Saudi Journal of Kidney Diseases and Transplantation. 2003. Vol. 14, no. 3, pp.367-377.
https://search.emarefa.net/detail/BIM-60425
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 375-377
Record ID
BIM-60425