Alport syndrome is an inherited disorder caused by mutations in the genes encoding for a protein called type 4 collagen. This protein provides structure to tissues and organs, and plays a vital role in the kidneys. The mutations lead to structural changes in the kidneys that can cause scarring and the development of kidney disease.
Most males with Alport syndrome develop end-stage kidney disease and kidney failure at later stages of Alport syndrome (commonly, this disease is X-linked). Kidney failure is less common in females with Alport syndrome, but does occur. In such cases, patients require dialysis or a kidney transplant.
What is dialysis?
The kidneys perform many functions, but one of the most important is filtering the blood to remove waste products and fluid. In kidney disease, the kidneys cannot filter the blood effectively, resulting in the buildup of waste and fluid in the blood.
Dialysis is a medical procedure that supports kidney function by removing waste products and fluid from the blood using a machine.
Types of dialysis
- In hemodialysis, the patient’s blood is removed through a tube in the arm and filtered through a machine to remove excess fluid and waste before being returned, through a different tube, to the patient. This type of dialysis needs to be performed about three times per week.
- Peritoneal dialysis uses the lining of the abdomen as the filtering device. A small incision is made in the abdomen, and a permanent catheter (or tube) is placed. Fluid is pumped into the abdomen through the catheter. The fluid absorbs the waste from the small blood vessels in the abdomen, and is drained away after a few hours and then replaced. This type of dialysis is performed four times per day, usually at night.
Both types of dialysis have pros and cons. Hemodialysis needs to be done a few times a week but requires a hospital or clinic visit. Peritoneal dialysis can be done at home, usually while the patient sleeps, but it must be done every day. Patients should work with a care team to choose the treatment that is best suited for them.
Various side effects from dialysis are possible, and are reported to include insomnia, cramps, light-headedness, dizziness, tiredness, blood clots, and nausea.
Dialysis can support kidney function until a transplant can be performed, but it is still very important to eat a heart-healthy diet to reduce the strain on the kidneys.
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