December 09, 2011
Dear Mayo Clinic:
My daughter's boyfriend has been diagnosed with Alport syndrome at 23 years old. Is a kidney transplant always necessary for someone who has been diagnosed with Alport syndrome? Is someone with this condition able to lead a normal life?
Alport syndrome is an uncommon genetic disorder characterized by blood in the urine. Over time, many people with Alport syndrome experience gradual loss of kidney function and eventually need dialysis or a kidney transplant. Although complications may be serious, Alport syndrome can usually be managed successfully.
Alport syndrome is an inherited disease caused by a mutation in a gene that controls type IV collagen, a component of tissue structures called basement membranes. The abnormal basement membranes produced in Alport syndrome are located in the kidney, inner ear and eye. The most common form of Alport syndrome involves a mutated gene on the X chromosome (X-linked) and affects boys more than girls. Boys have only one X chromosome. Girls have two. The normal X chromosome in girls acts as a buffer against the mutated gene. Other less common forms of the disease include autosomal recessive and autosomal dominant types. Female and male patients with these forms of the disease are equally affected.
Alport syndrome always involves the kidneys. Many people with Alport syndrome also develop hearing problems and eye abnormalities. In the kidneys, abnormal basement membranes cause blood to leak into the urine (hematuria). The hematuria may be microscopic (only able to be seen with a microscope). In other cases the hematuria is visible, turning the urine pink, red or brown. Protein may also spill into the urine.
Over time, the kidneys usually become scarred and lose their ability to function properly. Chronic kidney disease can lead to high blood pressure, fluid retention, heart disease and a range of other health problems. In the ears, abnormal basement membranes can result in hearing loss. In the eyes, gradual loss of vision and cataracts may develop.
How quickly Alport syndrome progresses depends on the kind of genetic mutation involved. Male patients with X-linked Alport syndrome typically develop blood in their urine during infancy. They usually need dialysis or transplantation by the time they are teenagers or young adults. In contrast, female patients with X-linked Alport syndrome are much less likely to develop kidney failure. Patients with autosomal recessive disease develop kidney failure by the time they are teenagers or young adults, while those with autosomal dominant disease usually reach middle age before they need dialysis or transplantation.
Between diagnosis and the point when dialysis or a transplant is required, patients with Alport syndrome are managed just like other patients with chronic kidney disease. They need to be closely followed by a kidney doctor (nephrologist) who will monitor their blood pressure and kidney function. Medications to treat high blood pressure are often required. As kidney function deteriorates, patients may need to follow a diet designed for those with kidney disease. In addition, hearing and vision should be monitored.
Kidney transplantation is usually offered to people with Alport syndrome. These patients often do very well following a kidney transplant. Close follow-up care is required, of course, and patients need to take medications to help ensure that their bodies do not reject the new kidney. For the most part, however, transplantation relieves the signs and symptoms caused by Alport syndrome, and the long-term outlook for these transplant patients is good.
Overall, apart from the steps needed to manage their kidney function, hearing and vision, people who have Alport syndrome typically live a relatively normal lifestyle. To monitor his condition, I would encourage your daughter's boyfriend to establish a regular follow-up schedule with a nephrologist.
— Elizabeth Lorenz, M.D., Nephrology and Hypertension, Mayo Clinic, Rochester, Minn.