Alport’s syndrome is an inherited kidney disease. This means it runs in families and is caused by a genetic mutation. Men are more severely affected than women. It can affect lead to deafness as well as kidney failure.
Alport’s syndrome is named after Dr A. Cecil Alport, who recognised families with the syndrome in 1927. He was born in 1880 in South Africa, and graduated as a doctor in Edinburgh. At first he worked in Johannesburg (owning a small gold mine). After the First World War he moved to St Mary's Hospital, Paddington, London, where he was working when he described the syndrome of hereditary renal failure and deafness. Later he worked in Cairo, and died in 1959.
Alport’s syndrome is caused by an abnormality in collagen in the body. Collagen is a ‘building block’, giving parts of the body not supported by bone their shape and strength. There is one particular type of collagen found mostly in the kidney and the ear, and this is affected in Alport’s syndrome, leading to kidney failure and partial deafness. Women with Alport’s syndrome are able to produce more normal collagen than men, and usually have mild disease. However they can pass Alport’s syndrome with kidney failure to their sons.
Alport’s syndrome can be diagnosed in several ways. First, if Alport’s syndrome is known to run in the family, a simple test for blood in the urine may be enough to be fairly sure of the diagnosis. Second, someone with kidney disease might have a kidney biopsy (sample of kidney removed with a needle). Alport’s syndrome has a particular appearance in the kidney when examined under the microscope. Lastly, testing for the abnormal gene in Alport’s syndrome is sometimes possible.
Alport’s syndrome is not common. One or two out of 100 people starting dialysis have Alport’s syndrome, with a frequency in the general population of about 1 in 5,000, to 1 in 10,000
At present there is no cure for Alport’s syndrome. However, treatment of the problems caused by Alport’s syndrome is very important. The rate of damage to the kidneys can be reduced by careful treatment of the blood pressure.
Someone with Alport’s syndrome should also have ear and eye tests to detect any problems. Men with Alport’s syndrome may, but not always, develop marked hearing loss as they become young adults and may need to wear a hearing aid. Complete deafness is not common. Eye problems hardly ever cause blindness, but may need specialist treatment.
Nearly all the men and about 1 in 10 women with Alport’s syndrome develop kidney failure. However, Alport’s syndrome can vary slightly from family to family. There is also a rare subtype of Alport’s in which kidney failure occurs in childhood.
Alport’s syndrome does not cause particular problems with dialysis. Nearly all people with Alport’s syndrome and kidney failure can have a kidney transplant, so long as they are generally fit. Someone with Alport’s syndrome can have a kidney transplant from a healthy family member, though a transplant from a woman with Alport’s syndrome to her affected son remains experimental.
Yes. Both men and women with Alport’s syndrome have small amounts of blood in the urine from a very early age, so it is easy to test for Alport’s syndrome in relatives of someone known to be affected. However, it is not necessary to test every single family member. Specialist advice is necessary, but the inheritance of Alport’s syndrome is described in the ‘more details’ section.
The National Kidney Federation cannot accept responsibility for information provided. The above is for guidance only. Patients are advised to seek further information from their own doctor.