Porphyria - an overview, History Research

Porfirii - Is a group of inherited, or caused by hereditary predisposition diseases, in which the body increases the content of porphyrins ate precursors, which makes a number of clinical signs; different for different types of Porphyry. The group should not be attributed Porphyry acquired diseases intoxication, where it is found elevated levels of porphyrins in the urine (porfiriiurija) or erythrocyte (porfirinemiya).

Normally, a major amount of porphyrin synthesized in bone marrow and liver. Porphyrins, mainly synthesized in the bone marrow, used for the formation of hemoglobin, and in the liver - for the formation of cytochromes, catalase, peroksy- oxidase and other enzymes, which include gem.

The porphyrins are synthesized in all cells of the body, that is necessary for synthesis of cytochromes. However, the amount of heme, synthesized in other organs, much less than, than synthesized in bone marrow and liver. Violation of porphyrin synthesis may occur in bone marrow erythrokaryocytes, and liver. Therefore all porphyrias divided into two groups:

• Erythropoietic;
• Hepatic.

By erythropoietic porphyria include:

• Uroporfiriyu;
• Protoporphyria;
• Coproporphyria

To liver:

• Acute intermittent porphyria;
• Hereditary coproporphyria;
• Variegated porphyria;
• Urokoproporfirii (Late each Porphyry).

The first description was made in porphyria 1874. The patient was observed increased sensitivity to solar radiation, splenomegaly, urine red. IN 1889 Mr. described patient, in which after taking sleeping pills appeared red urine. In the future, the patient died of severe damage to the nervous system. A few years later it has been described cases with signs of polyneuritis, mental disorders, abdominal pain, of urine red or pink. One of the patients with an exacerbation of the disease occurred after taking sleeping pills, the other - without any connection with the administration of the drug.

Pigment, discovered in the urine, first called urogematoporfirina, and then gematoporfirina, since it was assumed, that the substance detected in urine, which managed to get from the blood artificially with the handling of its sulfuric acid. Therefore, the disease initially called gematoporfiriey or gematoporfirinuriey. It was subsequently found, that in the human body is never produced hematoporphyrin. Substances, excreted in urine and feces in different types of porphyria, It does not refer to gematoporfirnnu, and to uroporphyrin, koproporfyrynu, protoporphyrin and their predecessors. Therefore, the term "hematoporphyrin" is currently not applicable.

Significant contribution to the study of Porphyry introduced Gunter (1911, 1922). He described the congenital porphyria, hereinafter called porphyria Gunther, or erythropoietic uroporfiriey, established, that the disease is associated with impaired synthesis of porphyrins, He presented the first classification Porphyry.

Waldenstrom (1937, 1939, 1957) first pointed out, that the urine in patients with acute intermittent porphyria allocated mainly to porphyrin precursor - porphobilinogen, and that the substance is found in small quantities in the urine of healthy humans. He established, that acute intermittent porphyria is inherited in dominant fashion, He highlighted the latent form of the disease, He described the most common form of porphyria, manifested in adults photosensitivity, Vulnerable skin, enlarged liver, violation of its functional state.

IN 1955 g. described a previously unknown form of - hereditary coproporphyria, having much in common with acute intermittent porphyria.

IN 1961 g. described erythropoietic protoporphyria, in which the content of porphyrins in the urine is not excessive, however, it found elevated levels of protoporphyrin in erythrocytes and feces.

Because, that porphyria - a group of diseases with different pathogenesis, Clinic, therapeutic approach, forecast, umbrella term "porphyrin disease" is not currently used.