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Urology (Expert Forum)
fabry disease
Questions in the Urology forum are answered by Dr. Stephen Liroff, affiliated with the Henry Ford Hospital. Topics covered include benign prostate disease, penis curvature, cystisis, kidney stones, pediatric urology, prostate, sexual dysfunction, urinary tract infections (UTI), and urological cancers.
fabry disease
by alex-magana, Mar 02, 1998 12:00AM
Re: fabry disease
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Posted by HFHS M.D.-MS on March 04, 1998 at 16:31:46:
In Reply to: fabry disease posted by alex magana on March 02, 1998 at 15:43:50:
What is fabry disease. What can it do.
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Thanks Alex for your question.
Fabry’s disease is also referred to as Angiokeratoma Corporis Diffusum Universale.
Fabry’s disease is an inherited disease which is associated with the lack an enzyme which helps the body break down of certain complex sugars. This enzyme is called Galactosidase A. The gene which code for this enzyme is on chromosome X. The deficiency of the this enzyme allows accumulation of certain complex sugars in many tissues of the body and therefore these organs can not function properly. It is diagnosed by a blood sample and can be determined prenatally by testing the cells retrieved by amniocentesis for the enzyme.
Lesions and disease states that exist in patients with Fabry’s disease are as follows;
red skin lesions in the male , diseased nerves which affect the involuntary bodily functions, blood vessel diseases which block blood flow to the brain, heart, eye and kidney.
Urologic manifestations of Fabry’s disease include blood in the urine and mild protein in the urine. Renal failure in men begins in the fifth decade of life. This occurs earlier and is more severe in the group B and AB blood type individuals. Renal transplantation is an option. The kidney graft may accumulate the complex sugars, but is not been reported to cause loss of graft function.
This information is provided for general medical education purposes only. Please consult your physician for diagnostic and treatment options pertaining to your specific medical condition.
More individualized care is available at the Henry Ford Hospital and its satellites (1 800 653 6568). We can also arrange local accommodations through this number if this is
your need. Please bring any physicians’ notes and lab test results that
you may be able to obtain. These will help us greatly.
Sincerely;
HFHS M.D.- MS
* Keyword: Fabry’s Disease, Angiokeratoma Corporis Diffusum Universale
