Porfiry disease is a special type of liver pathology at the genetic level, in which there is absolutely wrong synthesis of hemoglobin. It is believed that in the biosynthesis of hemoglobin itself there are eight consecutive, so-called enzymatic steps. Any violation at the stage of one of them can already lead to the development of such a problem as porphyria. The disease, as a rule, develops rapidly. In this article we will describe in as much detail as possible what this ailment is and what are the modern methods of its treatment.
Porphyria is a disease of modern humanity. What is the mechanism of development of the disease?
Initially, the non-protein part of hemoglobin (otherwise, heme) turns into a toxic substance, which, in turn, corrodes absolutely all existing subcutaneous tissues. So, the skin gradually acquires a brownish tint, with time it becomes thinner, and bursts due to direct exposure to sunlight. That is why patients with this ailment can find numerous ulcers and scars. So porphyria gradually develops. A disease, we note, in the absence of timely treatment, as a rule, captures more and more new areas of the skin.
Causes
A sequential violation of the heme biosynthesis itself , which was discussed somewhat above, leads to excessive accumulation of porphyrins in the body, as well as their so-called precursors (for example, porphobilinogen and aminolevulinic acid). It is the excess of the latter that has the strongest toxic effect on the body itself, as a result of which causes already developing clinical symptoms. The reason for this type of disturbance is the mutation of the gene responsible for the activity of certain enzymes involved in multistage heme synthesis. At the moment, scientists are engaged in a more detailed study of all these processes and such an ailment as porphyria.
Disease: Symptoms
- Damage to the central nervous system.
- Isolation of pinkish urine.
- Numerous ulcers and scars on the body.
- Pain and discomfort in the abdomen.
- High blood pressure.
What should be the treatment?
Unfortunately, at the moment, specialists cannot offer effective methods of pathogenetic therapy of this disease. In some cases (for example, erythropoietic urophorphyria), treatment can be effective. Intermittent porphyria (an illness in the acute stage) categorically does not allow the use of analgin and tranquilizers, since they cause an exacerbation of all symptoms. In the presence of pain with an ailment such as porphyria, as a rule, the strongest drugs are prescribed.
Conclusion
Porfiry disease (photo No. 1 demonstrates one of its manifestations), unfortunately, is diagnosed today more and more often. In conclusion, it should be noted that today this kind of ailment still remains poorly understood. Scientists from around the world continue to research the main causes, the primary clinical symptoms, as well as methods of dealing with such an unpleasant problem. Be healthy!