Porphyria - a disease of modern humanity

Porphyria - a disease of modern humanity

Porphyria is a special diseasea kind of liver pathology at the genetic level, in which absolutely wrong synthesis of hemoglobin is observed. 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. Disease, as a rule, develops prompt rates. 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?

porphyria diseaseInitially, the non-protein part of hemoglobin (otherwise- gem) turns into a toxic substance, which, in turn, corrodes all the available subcutaneous tissues. So, the skin gradually acquires a brownish hue, eventually becomes thinner, and from direct exposure to sunlight bursts. This is why patients with this ailment can detect numerous ulcers and scars. So gradually develops porphyria. Disease, we note, in the absence of timely treatment, as a rule, captures all the new areas of the skin.

Causes

Consecutive violation of the biosynthesis itselfheme, 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 consequence, it causes already developing clinical symptoms. The cause of these disorders is the mutation of the gene responsible for the activity of certain enzymes that participate in the multi-stage synthesis of the heme. At the moment, scientists are engaged in a more detailed study of all these processes and ailment, such as porphyria.

Disease: Symptomsporphyria disease symptoms

  • The defeat of the central nervous system.
  • Urinal discharge of pinkish hue.
  • Numerous ulcers and scars on the body.
  • Pain and discomfort in the abdomen.
  • Increase in blood pressure.

What should be the treatment?

Unfortunately, at the moment the specialists are notcan offer effective methods of pathogenetic therapy of this disease. In some cases (eg, erythropoietic uroporphyria), treatment can be effective. Intermittent porphyria (acute disease) categorically does not allow the use of analgin and tranquilizers, because they cause an exacerbation of all symptoms. In the presence of pain syndrome with such a disease as porphyria, as a rule, the strongest narcotic drugs are prescribed.

porphyria pictureConclusion

Porphyria disease (Picture No. 1 shows one of theits manifestations), unfortunately, is diagnosed today more often. 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 of the onset, the primary clinical symptoms, as well as methods to combat such an unpleasant problem.

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