Günther's disease

Gunther disease( erythropoietic porphyria) - transmitted by recessive manner atusomno extremely rare genetic disorder that gives the patient symptoms similar to the kind of mythological creature. This disease was first described by the German physician Hans Günther, whose name she was later named.

The main scientific name for Guenter's disease is congenital erythropoietic porphyria. Usually porphyria include genetic disorders of pigment metabolism, which are accompanied by a high content in tissues and blood porphyrin - nitrogen-containing pigment, which is part of hemoglobin and give blood red

Gunther disease - causes

Some modern scholars have expressed very serious assumption that allExisting stories about vampires can have a scientific justification. The researchers claim that they could arise as a consequence of the influence of such a rare genetic disease as Gunther's disease. Skin porphyria spoils the blood, causing violations of gemma production. It was noted that Günther's disease is most often observed in small villages of Transylvania, where it is presumed to develop due to closely related links. The prevalence of this rare genetic pathology is 1 person per 200,000 population. If one of the parents has this disease, then with 25% certainty it can be said that he will give it to his child. Modern medicine describes about eighty cases of acute porphyria, which could not be cured.

Günter's disease develops in the red bone marrow - the site of the synthesis of red blood cells. The cause of this hereditary disease is a recessive mutation. Recessive mutation located in the autosomal( non-sexual) chromosome, leads to increased photosensitivity of the skin and metabolic disorders. One hundred percent chance of congenital erythropoietic porphyria is possible only in children whose both parents are carriers of the mutated gene, and it is not necessary to have manifested any symptoms

Gunther disease -

symptoms This disease is characterized by the absence of production of the body's main blood components -Red blood cells, which in turn is reflected by a lack of oxygen and iron in the blood. Both in the blood and in the tissues, the pigment exchange is disturbed and, due to the action of the sun's rays, the decomposition of hemoglobin begins. Simultaneously, there is a significant deformation of the tendons, leading in some cases to the twisting of the fingers.

Gunther disease is characterized by the fact that the non-protein part of hemoglobin( heme) is transformed into the subcutaneous tissue corrosive toxic substance. As a result, the skin becomes thinner, becomes brown and bursts as a result of exposure to sunlight. It is for this reason that after a certain period of time the skin becomes covered with scars and ulcers. In addition, these inflammatory phenomena severely damage and deform the nose and ears.

The man looks frightening - he has a face covered with ulcers, twisted fingers. Located around the lips and gums skin hardens and dries, which leads to the exposure of incisors and a terrible "vampire" grin. Another symptom of Günther's disease is the red-brown or red color of teeth, which is due to the deposition of porphyrins on them. Skin covers in the patient greatly turn pale, during the daytime they have a decline in strength and considerable weakness, at night the energy returns. It should be noted that this set of symptoms is observed only in the late stages of the disease.

Günter's disease usually begins to manifest itself during the first year of life, but it may even after four years. Because mutation occurs increased synthesis pigment - precursor of porphyrin, which leads to its higher content of the erythrocytes( up to 25 times).This is what causes the following symptoms of the disease:

• Chronic photosensitivity. Even the penetration of sunlight through thin clothing or window glass can result in a burn. Patients complain that the irradiated areas of the skin itch, they appear red bubble rash

• Due isolation excess pigment urine becomes bloody red

• There is increased hirsutism( hypertrichosis)

• Due to deposits in the dentin and enamel porphyrin teeth stainedIn red color( erythrodontia)

• There is an increase in the spleen, and in some cases, of the liver

• In the bloodstream, erythrocytes( hemolytic anemia)

are destroyed. All of the above symptoms make the patient very similar to a vampire. Until the second half of the last century, Gunther's disease was considered absolutely incurable. To alleviate the condition of the patient and to fill the shortage of blood cells, in the Middle Ages he was given fresh blood to drink. Naturally, this did not give any positive results, as simply drinking a helping of blood, improving her condition in the body is impossible.

Another established myth about vampires and their fear of garlic can be debunked by the statement that it is garlic when used in its food that releases acid, which increases the damage and, accordingly, the suffering caused by the disease. Therefore it is quite natural that people with Günter's disease avoid using painful sensations of garlic

Günther's disease - treatment of

More often the further fate of patients with Günter's disease is very tragic. Most of the children suffering from this disease do not live to adolescence, which is due to the presence of numerous metabolic disorders, which entail an overabundance of porphyrin in the blood.

Treatment of Günter's disease according to modern medical experts at this stage of development of the medical industry is not possible. It is assumed that bone marrow transplantation is the ideal method of treatment of the disease. This task is very difficult, as it requires careful selection of the donor and long-term specific concomitant therapy. Some scientists suggest a method of transplantation of cord blood stem cells, but the chance to find the necessary donor is reduced to zero.

As it is not yet possible to cure porphyria, it is possible to significantly reduce the number of relapses of the disease. This can be achieved by introducing very strict limits on the time spent in the sun. Before walking, on the open parts of the body should be applied protective skin from ultraviolet cream.