Porphyria disease is a special kind of liver pathology at the genetic level, in which there is absolutely incorrect hemoglobin synthesis. 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 at a rapid pace. In this article, we will tell you in as much detail as possible what this disease 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 (in other words, heme) turns into a toxic substance, which, in turn, consistently corrodes absolutely all existing subcutaneous tissues. So, the skin gradually acquires a brownish tint, over timebecomes thinner, and bursts from direct exposure to sunlight. That is why patients with this disease can find numerous ulcers and scars. This is how porphyria gradually develops. The disease, we note, in the absence of timely treatment, as a rule, captures all new areas of the skin.
Reasons
Sequential disruption of the heme biosynthesis itself, which was discussed above, leads to excessive accumulation in the body of porphyrins, 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, it causes the already developing clinical symptoms. The reason for this kind of disorders is a mutation of the gene responsible for the activity of some enzymes involved in the multi-stage 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
- Injury to the central nervous system.
- Discharge of pinkish urine.
- Many sores and scars on the body.
- Pain and discomfort in the abdomen.
- Increased blood pressure.
What should be the treatment?
Unfortunately, at the moment, experts cannot offer effective methods of pathogenetic therapy for this disease. In some cases (eg, erythropoietic uroporphyria), treatment may beeffectively. Intermittent porphyria (a disease in the acute stage) categorically does not allow the use of analgin and tranquilizers, since it is they that cause an exacerbation of all symptoms. In the presence of pain in such an ailment as porphyria, as a rule, the strongest drugs are prescribed.
Conclusion
The disease of porphyria (photo No. 1 shows one of its manifestations), unfortunately, is being diagnosed more and more often these days. In conclusion, it should be noted that today this kind of ailment still remains poorly understood. Scientists from all over the world continue to investigate the main causes, primary clinical symptoms, as well as methods of dealing with such an unpleasant problem. Stay he althy!
