Alport Syndrome: Causes, Symptoms & Treatment

Alport syndrome is a hereditary disease. It primarily affects the kidneys, eyes, and inner ear.

What is Alport syndrome?

Doctors also refer to Alport syndrome as progressive hereditary nephritis. This refers to a hereditary disease that causes progressive nephropathy leading to kidney failure. Physicians also refer to Alport syndrome as progressive hereditary nephritis. This refers to a hereditary disease that causes progressive nephropathy leading to kidney failure. Alport syndrome was named after the South African physician Arthur Cecil Alport (1880-1959), who first described the disease in 1927. In 1961, the hereditary disease was given the name “Alport syndrome”. The rare disorder is primarily seen in boys and men.

Causes

Despite its rare occurrence, Alport syndrome forms the second most common kidney disease in children and young adults that is genetic. The cause of the inherited disease is genetic mutations in type IV collagens. Collagens form an extremely important component of collagenous connective tissue. This in turn ensures the stability of organ and cell structure walls. Connective tissue can be found almost throughout the body. It is found in the skin, blood vessels, nerves, glands, mucous membranes, tendons and muscles. Type IV collagen is also found on the basement membrane of the renal corpuscles, the eyes and the inner ear. For this reason, these body structures are also affected by Alport syndrome. The reason for progressive hereditary nephritis is the inheritance of genetic defects that are already present within the family. However, about 15 percent of all diseases also result from new mutations. Since in Alport syndrome the genetic defect is transmitted to the sex-linked X chromosomes, more than 80 percent of all sufferers belong to the male sex. Thus, unlike girls, boys have only one X chromosome. For this reason, compensation of the genetic defect is not possible in boys. In girls, depending on the mode of inheritance, compensation does not necessarily lead to the onset of Alport syndrome. However, transmission of the disease to later children is quite possible.

Symptoms, complaints, and signs

Alport syndrome first becomes noticeable in the kidneys by the appearance of blood in the urine (hematuria). As it progresses, protein also shows up in the urine (proteinuria). The urine is discolored pink, dark red, black or brown during infections, but this does not mean any danger despite the frightening appearance. When the infection clears up, the urine color usually returns to normal. The ears are also affected by the hereditary disease in the form of sensorineural hearing loss, which occurs on both sides. It is seen in about 50 percent of all sufferers from the age of 9 to 12. Around ten percent of patients also suffer from changes in the eyes. These include changes in the fundus of the eye, cataracts, and a cone-shaped bulging lens. In rare cases, there is also leiomyomatosis and a malformed esophagus. Malformations of the intestine and trachea are also possible. This can result in symptoms such as esophagitis, difficulty swallowing, chronic constipation, or swallowing food in infancy or early childhood. Eventually, chronic progressive renal failure occurs. For this reason, renal replacement therapy is often required beginning in the second decade of life.

Diagnosis and progression

With the aid of various procedures, Alport syndrome can now be diagnosed relatively early. These include renal sonography (ultrasound examination), a kidney biopsy in which a tissue sample is taken from the kidneys, a blood test to determine blood levels, and an examination of the urine, which is used to determine the amount of protein. Furthermore, genetic analysis can be performed in a laboratory. Another diagnostic method is testing the child’s vision and hearing. A detailed medical history of the family also plays an important role. Diagnosis of Alport syndrome usually begins when the typical symptoms or kidney dysfunction are present. The course of Alport syndrome can be extremely variable. In young adulthood, however, renal insufficiency must often be expected, necessitating dialysis (blood washing).

Complications

Various complications can occur with Alport syndrome. These depend primarily on whether Alport syndrome was inherited or whether it resulted from an infection. Usually, an altered color of the urine occurs in Alport syndrome. The urine is red in color and contains blood. To the patient, this color looks relatively frightening, but it has no health effects on the body. When Alport syndrome disappears, the color of the urine also returns to normal. In most cases, Alport syndrome leads to hearing loss. Children are especially affected by this complication. It leads to a decreased quality of life, which can cause severe psychological problems and depression in children at a young age. This hearing loss can also progress to bullying in many cases. It is not uncommon for Alport syndrome to affect the eyes as well, resulting in cataracts or deteriorated vision. In some cases, the syndrome also negatively affects the throat and intestines, so that swallowing difficulties or malformations in the intestines can occur here. Swallowing may be more common in young children with Alport syndrome. Treatment can be given early and greatly limit symptoms.

When should you see a doctor?

With Alport syndrome, a doctor must always be consulted. As a rule, the syndrome extremely reduces the patient’s quality of life, so that ordinary everyday life is no longer possible. Especially the hearing loss must be examined and treated by a doctor. Possibly, the affected person is dependent on a hearing aid. Likewise, the cataract can also be removed by an ophthalmologist so that the affected person no longer suffers from visual disturbances. Treatment is also necessary if Alport syndrome causes kidney failure. In this case, the patient may die without treatment. As a rule, however, the affected person is dependent on dialysis or on a donor kidney. A medical examination is also necessary for babies and small children with Alport syndrome, so that swallowing difficulties and thus swallowing can be avoided. The syndrome is also primarily noticeable by dark urine, in which case a doctor should also be consulted. As a rule, the syndrome is recognized immediately after the birth of the child. However, the respective complaints can be properly treated at the specialist.

Treatment and therapy

Effective treatment of Alport syndrome is not yet possible. Although intensive research is currently underway, there is no prospect of a cure for the insidious hereditary disease in the coming years. For this reason, therapy remains limited to treating the symptoms. In order to halt kidney failure for as long as possible, medical care should begin in early childhood. An important part of treatment is the administration of ACE inhibitors such as Xanef or Ramipril. Alternatively, however, AT antagonists can be administered. Studies have shown that administration of these agents delays renal failure by about 10 to 15 years. Since renal insufficiency leads to an increase in blood pressure and thus to further damage to health, it is important to start appropriate therapy at an early stage. Despite all treatment measures, terminal renal failure cannot be stopped completely. If the renal insufficiency progresses, hemodialysis is absolutely necessary. In the further course, a kidney transplant can also be performed. For the treatment of sensorineural hearing loss, the affected child may receive hearing aids. If vision is impaired, the child may be fitted with glasses or contact lenses. In the case of cataracts, surgical correction can be performed. It is important to have symptomatic treatment performed by doctors from several specialties. These include an internist, an ear, nose and throat specialist, and an ophthalmologist. Human genetic counseling of affected individuals is also considered useful.

Outlook and prognosis

Due to Alport syndrome, there is primarily discomfort in the ears, eyes and kidneys. The daily life of the affected person is significantly complicated by this disease. It comes thereby to a hearing loss, with which the concerning can suffer in the worst case a complete hearing loss. Likewise, there are sometimes visual problems.Patients can develop cataracts, which can lead to considerable limitations. Furthermore, Alport syndrome also leads to renal insufficiency. If left untreated, this can lead to the death of the patient. The affected person is then dependent on dialysis or a transplant in order to continue to survive. As a rule, Alport syndrome also significantly reduces the life expectancy of the affected person. The treatment of Alport syndrome is primarily based on the symptoms and complaints. It cannot be universally predicted whether this will result in a positive course of the disease. Often, the parents of those affected also suffer from severe psychological complaints and therefore require psychological support.

Prevention

Alport syndrome is categorized as a hereditary disease. For this reason, no effective prevention is possible.

Aftercare

In Alport syndrome, the options for aftercare are usually very limited. It is a hereditary disease that cannot be treated causally, but only purely symptomatically. Therefore, a complete cure cannot be achieved. If the Alport syndrome patient has a desire to have children, genetic counseling can also be performed to prevent the syndrome from being passed on to further generations. The affected person is dependent on taking medications for Alport syndrome. These should be taken regularly to delay renal failure. However, the affected person usually dies as a result of this insufficiency if transplantation does not occur. The life expectancy of the affected person is therefore extremely reduced and limited by the syndrome. Regular eye examinations are also necessary to avoid blindness. Not infrequently, Alport syndrome also leads to psychological complaints or to severe depression and other moods. If these complaints also occur, discussions with one’s own family, with friends or with other people affected by the syndrome are very helpful. This can also lead to an exchange of information, so that the daily life of the affected person is also facilitated.

What you can do yourself

If Alport syndrome is suspected, the doctor must first be consulted. The disease must be medically clarified and treated. In support of this, the patient can take some measures to support the healing process. Above all, rest has proven to be effective. The body is usually already very weakened in the first stages of the disease, which is why greater exertion should be avoided at all costs. If the disease has caused hearing loss, an ear specialist must be consulted. Under certain circumstances, further therapeutic measures are indicated to reduce the restrictions for the sufferer to a minimum. For swallowing difficulties, natural remedies such as herbal teas, lozenges, essential oils or saline inhalation can help. Any intestinal symptoms can often be reduced by changing the diet. Since Alport syndrome is a serious disease that often takes a negative course, an accompanying therapy is useful. For this purpose, the affected person should talk to the responsible physician or go directly to a specialized clinic for hereditary diseases. To avoid serious complications, the course of the disease must be monitored by a doctor. The self-help measures and remedies mentioned are best used in consultation with the medical practitioner.