Erythropoietic porphyrias

Èritropoètičeskaâ uroporfiriâ – Congenital Porphyria – Porphyria Günther)

Èritropoètičeskaâ uroporfiriâ (congenital Porphyria, Porphyria Günther) -heavy, rarely occurring disease, characterized by skin lesion, hemolytic anemia with intracellular hemolysis, deposition in the skin, in erythrocytes and singling in the urine isomer I uroporphyrin.

Etiology and pathogenesis of Erythropoietic uroporfirii

Èritropoètičeskaâ uroporfiriâ - A hereditary disease, inherited by disease type, autosomal. There is one generation, Sometimes multiple children. Parents have a heterozygous carriers of the abnormal gene clinical manifestations of the disease no, Although sometimes in the urine detected a small increase of porphyrins.

In the pathogenesis of Erythropoietic uroporfirii have the value, most likely, two factors:

• At first, increased activity of the enzyme δ-aminolevulinic acid syntheses, that may be linked to the violation of the repression of enzyme synthesis;
• Secondly, a slight decrease in enzyme activity kosintazy uroporfirinogena III, bringing out excessive amounts of porfobilinogena isomer is formed I uroporfirinogena, that cannot be used in the body for further transformations.

The number of constituent isomers III uroporfirinogena enough for the synthesis of heme, Therefore, patients with no gipohromnoj anemia with high iron content. Excessive deposition of uroporphyrin in erythrocytes leads to a reduction in life expectancy of erythrocytes, an increased hemolysis. The red blood cells is released a large number of uroporfirinogena, which is oxidized to uroporfirin and deposited in the skin, determining fotosensibilizaciju.

Clinical manifestations of Erythropoietic uroporfirii

The first signs of the disease — the Red urine, increased skin sensitivity to solar radiation — can occur in newborn infants.

After a few weeks or months after birth on different parts of the body of the child bubbles diameter from 1 to 10 mm, often ulcerate, resulting in poorly healing ulcers, associates itself with secondary infection. In the future when applying antibiotics rubcujutsja ulcer, sklerozirovannoj sites appearing skin, atrophic scars. These scars cause disfigurement of the child, can cause contracture of various joints, blindness. Often the child has no hair, nails. Sklerodermopodobnye changes appear on the skin of the face. Characterized by considerable darkening teeth, reddish glow of their notes in ultraviolet radiation. Almost all patients identified increased spleen.

Laboratory parameters in Erythropoietic uroporfirii

Typical signs of hemolytic anemia are detected, flowing with intracellular hemolysis:

• increasing the level of indirect bilirubin, content of reticulocytes;
• red bone marrow germ irritation if there is no increase of plasma free hemoglobin content and absence of hemosiderin in urine.

Osmotic resistance jertirocitov frequently lowered. Declining life expectancy of erythrocytes. In some cases there is thrombocytopenia.

When the biochemical study in the urine detected a large amount of isomer I uroporphyrin and to a much lesser extent, isomer I koproporfirina. In erythrocytes of patients too is determined by a large number of isomer I uroporphyrin, in ultraviolet radiation erythrocytes glow red.

Jeritropojeticheskaja uroporfiriI is a heavy disease, resulting in profound disability and often lead to death in early childhood. Before the use of antibiotics death came in under one year.

Most often children died from sepsis, associated with festering sores and the spread of the bacterial infection. Currently, the Outlook remains quite serious.

Jeritropojeticheskaja protoporfirija

Jeritropojeticheskaja protoporfirija — hereditary disease, characterized by a heightened sensitivity to solar radiation.

Etiology and pathogenesis of Erythropoietic protoporfirii

The disease is inherited by atheroma, autosomal.

The mechanism of the disease associated with the violation of the synthesis of heme protoporphyrin, most likely, part jeritrokariocitov. The presence of a moderately expressed gipohromnoj anemia testifies, in most jeritrokariocitov this synthesis occurs. Besides, has a place, apparently, the increase in σ-aminolevulinic acid synthesis. Deposition of protoporphyrin in the skin leads to certain violations of, However, the extent of toxic effects of protoporphyrin on the skin of the lower, than isomer I uroporphyrin.

Clinical manifestations of Erythropoietic protoporfirii

After a few minutes of stay in the shined with the sun setting on the exposed parts of the body appear a swelling of the skin, itch, hyperemia. After some time, often raises body temperature. For long term stays in the Sun appear hemorrhagic rash. Occasionally on the ground Burns identifies bubbles, that ulcerate and become covered by further small scars. The burn can be obtained through the windowpane, synthetic underwear, as the rays of the main plot (380 nm) spectrum, callers burn such patients, freely penetrate through glass and synthetic fibres.

Jeritropojeticheskaja protoporfirija unlike the Erythropoietic uroporfirii in most cases benign disease. One of the complications is anaemia anaemia with vyskim content of iron in the body. It is also possible the tendency to form in the gall bladder stones. In very rare cases, the disease is observed deposition in the liver of huge amount of porphyrins with the development of its failure.

Laboratory parameters in Erythropoietic protoporfirii

From the biochemical signs for Erythropoietic protoporfirii is characterized by a significant increase in (in the 20-100 times) content in erythrocyte protoporphyrin IX, While iron-deficiency anemia, various forms of hemolytic anemia, lead intoxication level it increases only in 2-3 times.

Uroporphyrin and koproporfirina content in erythrocytes is increased, as protoporfirii in the urine does not fall. Detected a significant increase in the number of protoporphyrin and koproporfirina in Calais, Although this trait is revealed not all patients.