Fabry disease is caused by mutations in the GLA gene, which encodes for alpha-galactosidase A, an enzyme that breaks down a fat molecule called globotriaosylceramide (Gb3 or GL-3) in all cells. These mutations cause the enzyme not to function properly and Gb3 to accumulate inside cells. This accumulation causes several characteristic symptoms of Fabry disease, including kidney disease. If not treated, kidney disease can cause potentially life-threatening kidney failure.

Dialysis is a medical procedure using a machine that supplements kidney function by removing waste products and excessive fluid from the blood.

About the kidneys

The kidneys are major organs that remove waste products, drugs, and excessive salts and fluids from the body through the urine. They also release hormones that regulate blood pressure and stimulate the production of red blood cells. The active form of vitamin D, which is required for strong healthy bones, is produced in the kidneys.

When kidneys fail or function sub-optimally, patients may require dialysis so that organs can function properly and blood pressure can be maintained. In the case of Fabry disease patients, dialysis will also remove excess levels of Gb3 from the blood.

Types of dialysis

The two types of dialysis are hemodialysis and peritoneal dialysis.

In hemodialysis, blood is pumped out of the patient’s body through tubes into a machine that filters out waste products and excess salts and fluid, and the clarified or filtered blood is then returned into the patient’s body. Hemodialysis requires specialized equipment at a dialysis center, and usually takes four to five hours. It may need to be performed every day or three to four times a week.

In peritoneal dialysis, blood is filtered inside the patient’s body. A plastic tube called a catheter is surgically inserted into the abdomen. Then the abdominal cavity, also called the peritoneal cavity, is filled with the dialysate. The dialysate draws out extra fluid and waste products from the blood which flows through the arteries and veins lining the peritoneal cavity. The dialysate containing the waste products and extra fluid is then removed through the catheter.

The two common types of peritoneal dialysis are continuous ambulatory peritoneal dialysis (CAPD) and automated peritoneal dialysis (APD).

CAPD, which can be done at home or work, involves hooking a cleansing bag of dialysate through a catheter. After four or five hours, the patient can dispose of the bag of dialysate containing waste products and extra fluid.

APD is similar to CAPD, except that the bag is hooked to a machine that delivers and drains the fluid automatically.

Other information

Dialysis does not cure kidney disease in Fabry patients, but helps other organs to work normally until a kidney transplant can be done in case of kidney failure.

Patients undergoing dialysis may experience side effects that vary depending on their condition, diet, and fluid intake. Some side effects of peritoneal dialysis include hernia, lack of appetite, bloating, and weight gain. Side effects of hemodialysis include low blood pressure, muscle cramps, blood clots, and itchy or dry skin.

Patients must be carefully monitored for any of these symptoms and properly treated to prevent complications. They should also adhere strictly to diet and fluid intake recommendations from their healthcare provider.

 

Last updated: Oct. 18, 2019

***

Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Total Posts: 0
Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.