May
13
23:01
Genetic diseases

Gunther disease

Gunther disease

Gunther disease Photo Gunther disease (erythropoietic porphyria) - transmitted by atusomno recessive manner an extremely rare genetic disorder, symptoms of which gives the patient a certain resemblance to the mythological creature.For the first time this disease is described by the German doctor Hans Gunther, after whom she was named after.

Main scientific name Gunther disease, congenital erythropoietic porphyria is.Usually porphyria include genetic disorders of pigment metabolism, accompanied by a high content in tissues and blood porphyrin - nitrogen-containing pigment, a component of hemoglobin and which imparts blood red

Gunther disease - reasons

Some modern scholars have expressed very seriousthe assumption that all the existing stories about vampires may have a scientific basis.The researchers say they may have arisen as a consequence of the impact of such a rare genetic diseases such as Gunther's disease.Cutaneous porphyria spoil the blood, causing a breach of the gem production.It wa

s noted that Gunther disease occurs most often in small villages of Transylvania, where she develops as a result of the assumptions closely ties.The prevalence of this rare genetic pathology is 1 person on 200,000 population.If one parent has the disease is detected, the 25% confidence we can say that he will give it to your child.Modern medicine describes the order of eighty cases of acute porphyria, which could not be cured.

Gunther disease develops in the bone marrow - the site of synthesis of red blood cells.The cause of this disease is a hereditary recessive mutation.The recessive mutation is located in the autosomal (non-sexual) chromosome, results in 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

The disease is characterized by a lack of production in the bodymajor blood components - red blood cells, that in turn reflects a lack of oxygen and iron in the blood.As blood and tissue is broken and the pigment exchange due to exposure to sunlight hemoglobin begins to decay.At the same time there is a significant deformation of the tendon, leading in some cases to twisting fingers.

Gunther disease characterized by the fact that the non-protein part of hemoglobin (gems) is transformed into the subcutaneous tissue corrosive toxic substance.As a result, the skin thinned, turn brown, and as a result of exposure to sunlight - burst.It is for this reason that a certain period of time, the skin is covered with scars and sores.In addition, these inflammatory phenomena greatly damage and deformed nose and ears.

man looks scary - he covered with sores face gnarled fingers.Located around the lips and gums, it tightens the skin and dries out, resulting in the exposure of the incisors and scary "vampire" grin.Another symptom of the disease Gunther is red-brown or red color of the teeth, which is due to deposits on them porphyrin.The skin of the patient greatly pale in daylight hours they observed a significant loss of strength and weakness, night-time energy returns.It should be noted that this set of symptoms is observed only in the later stages of the disease.

disease usually begins to manifest Gunter already during the first year of life, but maybe after four years.Because the mutation is amplified pigment synthesis - the precursor of porphyrin, which leads to its higher content of the erythrocytes (up to 25 times).That is what causes the following symptoms:

• Chronic photosensitivity.Even as a result of the penetration of sunlight through a thin pane of glass or clothing may be burned.Patients complain that the irradiated skin itch, they appear red rash with blisters

• Due to the allocation of the excess pigment, urine becomes blood red

• There has been an increased growth of body hair (hypertrichosis)

• Due to the deposits indentin and enamel porphyrin, teeth stained red (eritrodontiya)

• enlargement of the spleen, and in some cases, liver

• in the bloodstream destroy red blood cells (hemolytic anemia)

All of the above symptoms gives the patient a great resemblance to a vampire.Until the second half of the last century was considered absolutely Gunther disease incurable.To facilitate the patient's condition and to compensate for the lack of blood cells, in the Middle Ages, he was given to drink fresh blood.Naturally it is no positive results did not give as a drinking portion of the blood to improve her condition in the body impossible.

Another well-established myth about vampires and their fear of garlic, you can debunk the assertion that it is in the use of garlic in his food releases acid that increases the damage and suffering, respectively, resulting from the disease.Therefore, it is quite natural that people with the disease eat Gunter avoid causing them pain garlic

Gunther disease - treatment

Most often the fate of patients with the disease Gunther very tragic.Most sufferers of this disease do not survive even a child to adolescence, which is associated with the presence of many metabolic disorders that result in an overabundance of blood porphyrin.

Treatment Gunther disease according to modern doctors at this stage of development of the medical industry is not possible.It is assumed that the ideal method of treating a disease is bone marrow transplantation.The task is daunting, because it requires careful selection of donor and prolonged specific concomitant therapy.Some scientists suggest the method of transplantation of cord blood stem cells, but the chance of finding a donor required is reduced to zero.

Since porphyria cure is not possible, it is possible to significantly reduce the number of relapses of the disease.This can be achieved by introducing very strict time limit sun exposure.Before the walk, on the exposed parts of the body should be applied to protect the skin from ultraviolet light cream.

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