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Help for Fabry patients

Kidney :: Help for Fabry patients

Physicians at the University of Alabama at Birmingham (UAB) have discovered the first successful treatment to stop progressive kidney function loss in patients suffering from Fabry disease. David Warnock, M.D., director of the UAB Division of Nephrology, led the team, whose results are published in the September edition of the Journal of the American Society of Nephrology.

?Our study showed for the first time that it is possible to stop progressive decline of kidney function by controlling urine protein excretion,? Warnock said.

Fabry, a genetic condition, is caused by the lack of enzymes that metabolize lipids. The effective treatment concoction includes an angiotensin-converting enzyme inhibitor (ACEI) and an angiotensin-receptor blocker (ARB) given to patients through infusion, along with enzyme replacement therapy.

Cynthia Hood, 37, of Birmingham comes to UAB?s Kirklin Clinic twice a month to receive this infusion. She was one of the 11 Fabry patients with progressive loss of kidney function to participate in Warnock?s pilot study. All 11 responded favorably to the treatment combination. The results have led to an international study.

?For me, there?s been a dramatic difference,? Hood said. ?My energy level is a whole lot better, which I attribute to the infusions as well as my weight loss (Hood underwent gastric bypass surgery in 2003). I can really feel the difference.?

Hood?s father died from Fabry, and numerous other members of Hood?s family have suffered from the disease. She said she knew she was a carrier, although she did not immediately attribute her minor symptoms ?a burning sensation in her feet, headaches, insomnia and difficulties with digestion ? to the disease. Doctors used to think that women could be carriers of Fabry, and pass it on to their children, but would not experience symptoms. Recent studies have proven this theory wrong.

In 1994, an amniocentesis revealed that Hood?s unborn son had the disease, and further testing confirmed that she did as well. Through a urinalysis doctors discovered that Hood?s kidneys were not functioning properly. They also found that Hood?s heart was one-and-a-half times larger than normal.

This treatment has helped Hood?s health improve. Her heart has returned to a normal size due to the enzyme replacement treatment, and the combination of ACEI and ARB has decreased the amount of protein in her urine, protecting her kidney function.

?My prayer is that research studies continue, and that my son, Parker, and others may benefit from this treatment,? Hood said.

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