Alport syndrome - specialists and information

Leading Medicine Guide Editors
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Leading Medicine Guide Editors

Alport syndrome, also known as progressive hereditary nephritis, is a hereditary disease that gradually worsens kidney function. Inheritance is mostly X-linked, which is why 80% of those affected are male. As a result of this disease, the eyes and ears can also be damaged, so that several specialists are involved in the therapy.

Below you will find further information and selected Alport syndrome specialists.

ICD codes for this diseases: Q87.8

Article overview

What is Alport syndrome?

Alport syndrome is a hereditary disease in which kidney function is impaired. As a result of these kidney dysfunctions, the disease usually ends in kidney failure. It is striking that this disease occurs primarily in boys or men, while girls and women are less frequently affected. The name Alport syndrome comes from the South African doctor Arthur Cecil Alport, who discovered the disease in the 1920s.

Alport syndrome cannot be stopped; ultimately, the patient must expect dialysis therapy or hope for a donor kidney for a kidney transplant. However, renal insufficiency can be delayed with medication.

What are the symptoms of Alport syndrome?

Alport syndrome can manifest itself in various ways. For example, this disease can cause urine discoloration due to blood or increased protein deposits in the urine. Urine can also become abnormally discolored during infections or illnesses. It can appear pink or even brownish. This is primarily harmless, as the color of the urine returns to normal once the infection or illness has been successfully combated.

Alport syndrome is also characterized by problems with the inner ears or eyes, for example. The reason: Alport syndrome causes mutations in what is known as type IV collagen. This collagen is found in the eyes and inner ears, which is why the disease sometimes also affects these areas. The consequences can include hearing impairment or cataracts.

Other, albeit rarer, symptoms include complaints of the oesophagus, which can result in difficulty swallowing or constipation.

Possible symptoms of Alport syndrome:

  • Blood in the urine
  • Increased amount of protein in the urine
  • Discoloration of the urine due to infections
  • Damage to the hearing
  • Eye damage

How does Alport syndrome develop?

As mentioned, Alport syndrome is a hereditary disease. This means that if a close relative - such as a parent - already suffers from this condition, it is likely that their children will also develop it. The type IV collagen mutation already mentioned plays a major role in Alport syndrome. These are therefore genetic defects.

The reason why men and boys are primarily affected by Alport syndrome is that this genetic defect is transmitted via the X chromosome. The mother passes on the defective X chromosome to her children in 50% of cases. Girls can compensate for the defect with the father's healthy X chromosome, but boys do not receive a second X chromosome and therefore develop the disease.

X-chromosomal-rezessive-MutterDiagram of recurrent X-linked inheritance, the genetic defect on the chromosome is marked in red

However, familial causes are not the only reason for the disease. Some of the diseases are also caused by new mutations.

Diagnosis of Alport syndrome

There are various examination methods that make it possible to detect the disease at an early stage. These include an ultrasound examination of the kidneys. Kidney biopsies, blood tests or urine tests - which examine the protein content, among other things - can also provide information about the disease. As the ears and eyes can also be affected, the eyes and ears are also examined if there is any suspicion.

However, a very important point is the medical history within the family. This can also provide valuable information for a correct diagnosis.

Treatment and prognosis

First of all, it should be mentioned that a cure for Alport syndrome is not possible according to the current state of medicine. Therefore, treatment is only concerned with combating the symptoms.

First and foremost, kidney failure is delayed as much as possible. This is achieved by administering ACE inhibitors or AT antagonists, among other things. Ideally, this delays complete kidney failure by several years. The earlier appropriate treatment is started, the better the chances.

Dialysis is therefore necessary in many cases, in which the tasks of the damaged kidneys are taken over. If this treatment option also reaches its limits, a donor kidney may be necessary.

If the eyes are affected, surgery, for example with a laser, can achieve an improvement.

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