Fabry disease is a rare X-linked genetic disease that is caused by mutations in the GLA gene. These mutations result in decreased production of an enzyme called alpha-galactosidase A, which is needed to break down a type of fat known as globotriaosylceramide (Gb3 or GL-3). Without enough of the enzyme, deposits of Gb3 accumulate inside cells, resulting in a wide range of symptoms and major organ damage, especially in the kidneys and heart.
Kidney failure, also known as end-stage renal disease (ESRD), in type 1 and type 2 Fabry disease is caused by the presence of proteins and blood in the urine. The progressive loss of kidney function requires the patient to undergo dialysis, or a kidney transplant in severe cases.
What are kidneys?
Kidneys are bean-shaped organs located below the rib cage on either side of the spine. They help filter wastes and harmful substances from the blood by way of urine production. In ESRD, about 90% of this function is lost, which can be life-threatening.
What is a kidney transplant?
A kidney transplant is a surgical procedure in which a damaged kidney is replaced with a healthy one from a living or deceased donor. A kidney transplant is often the treatment of choice for patients with ESRD as it offers a better quality of life and lower treatment costs than long-term dialysis.
What happens before transplantation?
As with any surgery, doctors weigh the benefits and risks before recommending a kidney transplant. Prior to the transplant, the patient is thoroughly evaluated by the transplant team, which may recommend several tests to determine compatibility. These include blood tests, HIV tests, prostate examinations for men, mammograms and pap smears for women, heart function tests, and other exams deemed fit.
If a living donor is available, the transplant procedure can be scheduled on a mutually convenient date for the donor and recipient, who must be compatible (identical or compatible blood groups) with each other. When live donors are not available, the patient is placed on a national waiting list and informed as soon as a healthy compatible kidney from a deceased person becomes available.
What happens after transplantation?
Fabry disease is not a contraindication for a kidney transplant, as evidenced by reports of patient survival being on par with non-Fabry disease patients who undergo the transplant. However, Fabry disease can sometimes recur in patients who have undergone a kidney transplant.
Several case studies of Fabry disease patients who have undergone kidney transplants have shown that enzyme replacement therapy (ERT) is well-tolerated. Therefore, continued administration of ERT after the transplant can improve patient survival and protect the newly grafted kidney.
Two case studies that involved the transplantation of Fabry disease-affected kidneys into healthy individuals showed that the normal levels of alpha-galactosidase A in the healthy person did not help in lowering the accumulated Gb3 in the donor’s kidneys even 12 years after transplantation. However, Gb3 levels in the transplanted kidneys did not increase any further, which suggests that kidneys from Fabry disease patients may be considered for transplantation as long as their function is not affected.
Other information
Kidney transplantation may not be performed in patients who have severe heart disease, cancer, or mental illness, or in cases of drug or alcohol abuse.
Dialysis may be recommended following the transplant until the newly grafted kidney starts producing urine. Immunosuppressants are given to ensure the body does not reject the new kidney. Doctor’s directions should be strictly followed to ensure a safe recovery.
Last updated: Oct. 29, 2019
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