The people who suffer from Alport syndrome experience problem related to the functioning of kidney. Sometimes they also suffer from deafness and some eye problems. This disease is one of the main causes, which are associated with the failure of the kidney. The other common associated problems with this disease are diabetes and high blood pressure. A person suffers from Alport syndrome when a particular collagen is missing from the kidney. This missing collagen causes inflammation in the kidney and as a consequence hampers the normal functioning of the kidney.
Alport Syndrome Causes
This is a disease, which is genetically caused. The presence of a particular gene in the X chromosome is one of the main causes for the syndrome. Since this gene can be found only in the X chromosome, this disease is common among the males. Across the globe this syndrome affects one out of every 5,000 children. This syndrome does not affect women as they have two X chromosomes. This ensures that women generally have a faulty gene along with a healthy one in both their X chromosomes. As men have both X and Y-chromosomes they do not necessarily possess a healthy X-chromosome and so if one of their chromosomes is genetically faulty they can have this disease. Alport syndrome causes kidney problems, which are often fatal.
In rare instances women might also carry faulty gene but due to the presence of one healthy gene they do not usually suffer from major kidney problems due to Alport syndrome. Sometimes a subdued gene is also the cause of the development of the syndrome. However at times this disease has no genetic linkages. There are many sufferers of the syndrome who have no family history of Alport syndrome. In most cases, however, the chances are that a person suffering from the disease can pass on the disease to his son.
The person who is suffering from Alport syndrome has a problem with the type IV collagen. This collagen is either absent or abnormal. This collagen is responsible for the making of GBM. The kidney filters the blood in the GBM. Thus the lack of the GBM results in the mal-functioning of the kidney. Though the presence of the collagen appears normal during childhood it deteriorates as one grows up. This membrane collagen is responsible for the proper functioning of the kidney. Apart from its presence in the kidney it is also found in the inner part of the ear and some part of the eyes. It is difficult to cure the disease though the complication can be prevented.
Alport Syndrome Symptoms
One of the earliest signs for Alport syndrome is the appearance of blood in the urine. It can happen during childhood. Even though the presence of blood might be in small quantity it should not be taken lightly and it would require immediate medical attention.Even if we are aware of the symptoms diagnosis of the disease is often difficult. This is mainly because this syndrome has some common similarities with other kidney diseases. Detection is possible only after the doctor suggests a biopsy of the kidney. The detection of the faulty gene is difficult. But if the traces of the syndrome have already been detected in a family then detection as well treatment for other affected members becomes easy. Though this trait is common among young men, there are cases of women and older people getting affected by it.
Treatment of Alport Syndrome
The patient diagnosed with Alport syndrome suffers from high blood pressure. The first step taken towards the treatment of this syndrome is keeping the high blood pressure under control with the restriction of salt and protein. Later on if the situation arises kidney transplant or dialysis is performed.
However, as this is a genetically caused disease a complete cure or prevention of this syndrome is not possible.
