All posts by Валентина Нотева

Today we will focus on Fabry disease – a rare genetic disease resulting from a mutation of a gene (GLA) located on the X chromosome.

Like any part of the human body, the kidneys often suffer from various diseases. Some of them which arise spontaneously, are treated and subside quickly. Others are hereditary, appear quietly, inflict their damage, and when the patient feels them, it is already too late – the damage is irreparable – the kidneys do not function and it is necessary to start hemodialysis.

That is why it is important to know the family history – many of the kidney diseases are genetic and determine as the family burden in the family. In these cases, prevention and regular prophylaxis is of paramount importance – even if they cannot always be avoided, hereditary kidney diseases could be caught in time and successfully controlled.

The condition affects people of all ethnic and cultural backgrounds. It mostly affects men (1 in 40,000 men), but women can also be affected by Fabry disease. The reason for this is that women have two X chromosomes, and if one of them is defective, the other manages to somewhat compensate for the defect.

For men, however, this is impossible.

Their symptoms are observed already in the first 10 years of life. Boys complain of reduced physical ability. They get tired more easily and have a harder time tolerating cold and heat because the blood vessels are affected. If the mother observes her son, she will notice that in the group of playing children he gets tired the fastest and goes to rest, hides from the sun or the cold. These are the first things that make an impression on mothers, but sometimes they are interpreted as a whim. Then the pain appears in the limbs, most often the lower ones. There are also unexplained abdominal pains that last for hours or days. They are usually associated with a slight increase in temperature and then disappear spontaneously. Mothers do not always remember to talk about these symptoms because they do not attach much importance to them. Therefore, doctors who know the disease should purposefully ask about the symptoms. In case of doubt, a test is done – most often on urine. A small amount of protein may appear in it. One negative sample is not enough, several are made because the protein appears in periods.

As the symptoms progress, young men develop hypertension (high blood pressure) approx. 20 years of age. In the third-fourth decade, the first strokes appear. After that, more pronounced pains appear, the retina is colored in a specific way, viewed in polarized light. The intermediate products of the exchange due to the genetic defect (metabolites) are released like spokes on wheels. This can be determined by an ophthalmologist who has experience with such patients, however.

After 30 years, impaired kidney function is also established. It is leading in the clinical picture, therefore these patients are usually seen by nephrologists.

In women, the same symptoms occur, but with a 10-15 year delay.

Most visible to the human eye are changes in the skin. Specific rashes appear, which are located on the buttock and abdominal area around the navel and to the inguinal folds. They are so characteristic that if the doctor has seen them, he can diagnose another person on this basis alone. This rash does not hurt or itch, it has only a cosmetic effect. It can appear at the very beginning or later. It is not indicative of the severity of the disease, but if it is known, we can with almost 100% certainty go towards this diagnosis.

And in the next article we will pay attention on – Why Fabry disease should be detected and treated early?

It is an indisputable fact that the news of starting hemodialysis, which patients with chronic renal failure (CKD) receive, is an extremely traumatic psychological moment – where starts suffering not only the body, but also the soul of the patient.

Dialysis treatment that continues for years, and the fact that the patient is dependent on the specialized equipment – the dialysis machine, on the observance of a strictly defined dietary regime, significantly limit the personal freedom of the patient, his social contacts, and seriously disturb his professional realization.

As a result, the patient experiences stress and anxiety, which have an adverse effect on the entire healing process, adaptation, emotions and quality of life.

Is hemodialysis treatment so scary and hopeless?

The short answer is: NO.

Here’s the longer one:

Hemodialysis treatment is now years away from what it was in the 90s – the equipment in private dialysis centers is at an excellent level, and in most municipal hospitals the old dialysis machines with hundreds of thousands of hours of service have already been replaced with new ones.

Competition between medical facilities raises the level of service for patients, and brand new Fresenius machines and consumables can now be seen more and more, which contributes to the excellent cleansing of toxins from the patient’s body.

The procedures, in turn, are tolerated by the patient much better, there are no constant vomiting, headaches during dialysis caused by low-quality and repeatedly used consumables, “disinfected” in formalin solution, there is no shortage of drugs to maintain a good level of hemoglobin, iron, calcium, phosphorus no longer “flys in the sky”. Hepatitis epidemics have not occurred for decades.

The many dialysis facilities scattered in the cities allow all patients not to be “tied to the machine”, but to be able to travel, if they wish, to go to the sea or on holiday abroad.

Most patients of working age continue with their employment.

Dialysis patients at a younger age, and not only that, have an excellent chance and opportunity for transplantation – again thanks to the quality dialysis they perform, which preserves the body as much as possible and gives it the necessary time until the cherished moment of transplantation, the chance also increases for the new authority to be accepted.

Cases of patients of childbearing age who, after a successful transplant, become mothers and continue their lives to the fullest are no longer rare.

Of course, for a job between two people to be done successfully and well, both must participate equally. Efforts are also needed on the part of the patients.

A good diet, strict adherence to dietary restrictions, no matter how unpleasant they may be at times, is a necessary part of the process.

Regular control of blood pressure, timely help from various specialists (cardiologist, endocrinologist, etc.), when necessary, are the best helper for the patient with CKD.

Last, but not least, is the choice of a dialysis structure – it is most important that the patient chooses that place where there is a successful symbiosis between excellent, new equipment, excellent medical control carried out during the dialysis sessions – which means the doctor to be constant between his patients, because in dialysis “whites” happen in seconds. One of the most important people in the dialysis facility is the dialysis nurses – they literally hold the patients’ lives in their hands. When the dialysis nurse is experienced, she can “stab” even the most difficult fistula, can sense an approaching danger for the patient even before the doctor has thought about it, and prevent it.

Medicines are also an indispensable part of the treatment and help in the long term to maintain the good general condition of the body. Saving them, unfortunately, does not lead to anything good.

In conclusion, dialysis is a team game, a game of trust and professionalism.

And let’s not forget that there is always a chance!

BALANCING WORK AND DIALYSIS