What is gunther's disease. International Rare Disease Day. Gunther's disease. Diagnostics

There are modern scientists who seriously believe that all vampire stories have a scientific basis. They could have arisen under the influence of such a rare disease as Gunther's disease or "cutaneous porphyria". Such a disease spoils the blood, creating disturbances in the reproduction of gemma. It is believed that Gunther's disease was most common in small villages in Transylvania. There she arose because of closely related ties.

Experts say that if it were not for this disease, there would never have been any stories and myths about vampires, Dracula and other heroes with fangs. For almost all the symptoms present, a patient who is already severely advanced in Gunther's disease is a typical movie vampire.

It was only in the 20th century that they could find the cause of this problem, as well as describe the disease. Before that, there was a real fight against vampires: from 1520 to 1630, more than 30 thousand people who were considered vampires were executed in France alone. The deeper Christianity penetrated the country, the more and more mercilessly they treated people who were overcome by late cutaneous porphyria.

Only one person in 200,000 suffers from this rare form of genetic pathology. At the same time, if one of the parents suffers from such a problem, then we can talk about 25% certainty that Gunther's disease will manifest itself in the child.

It is believed that such a disease is the result of incest. Medicine describes about 80 cases of acute porphyria when it was impossible to cure it. Günther's disease is characterized by the fact that the body does not produce the main components of blood - red blood cells. And this is already reflected in the lack of iron and oxygen in the blood.

In tissues and blood, there is a violation of pigment metabolism and due to exposure to sun rays hemoglobin begins to break down. In addition, in this process, deformation of the tendons occurs, which in some cases leads to twisting of the fingers.

Günther's disease is characterized by the fact that heme (non-protein part of hemoglobin) is transformed into a toxic substance that can corrode the subcutaneous tissue. Because of this, the skin turns brown in color, thins and bursts after being treated. For this reason, as time passes, the skin becomes completely covered with ulcers and scars. In addition, these inflammations damage the ears and nose, severely deforming them.

Imagine a person with twisted fingers and a face covered with sores... Isn't it frightening? Sunlight is simply contraindicated for such patients, because it brings them severe suffering. The skin around the gums and lips tightens and dries out. Because of this, the incisors are exposed to the very gums, creating a terrible vampire grin.

Another symptom this disease: porphyrin is deposited on the teeth, for this reason they may turn red or reddish brown. The patient has a very strong cover. In the daytime, they feel the strongest lethargy and energy returns only at night. It should be noted that all this set of symptoms is typical only for the late stage of the disease. There are other, much less terrible forms of porphyria.

Until the second half of the 20th century, Gunther's disease was considered practically incurable. There is evidence that in order to alleviate the patient's condition, he was given fresh blood, replenishing the lack of blood cells. Naturally, this did not give any results, because it is impossible to improve the condition of the blood simply by drinking a portion of it.

Patients with porphyria could not eat garlic, because the acid secreted by this vegetable increases the damage resulting from the disease. Porphyria disease can be caused artificially by using certain poisons and chemicals.

1 in 1,000,000 newborns is born with Gunther's disease. Such a disease is hereditary - with it there is a violation of pigment metabolism, and accumulation of nitrogen-containing pigment in the tissues is also noted.

At a late stage in the development of such a pathology, the appearance of carriers of the disease deteriorates noticeably, sometimes they even say that it is disfigured. Most often, such cases are recorded among the rural population of Transylvania. This is explained by the prevalence of closely related marriages in the region.

Günther's disease turns a person into a kind of mythological creature - his appearance changes so much. It also happens that patients with this pathology are compared with vampires - they try to feed them with garlic, for example. Which, by the way, significantly worsens the patient's condition.

The reasons why Gunther's disease manifests itself are few. More precisely, just one. Pathology begins in the bone marrow of the bones, because. it is he who is the site of the synthesis of red blood cells. There is a pathology due to a recessive gene. And he, in turn, is inherited.

The mutation is on the non-sex chromosome. Because of it, a person’s tolerance to sunlight is disturbed in particular - the photosensitivity of the skin increases. In addition, his metabolic processes begin to fail.

If one of the parents has such a pathology, then the child will have it with a probability of 25%. 100% detection of the gene in a child can be noted if both parents are carriers of the mutation. At the same time, the mother and father may not have any signs.

Symptoms and signs

With this pathology, a person does not have red blood cells in the blood. The consequences of this state are:

oxygen deficiency;
iron deficiency;
Problems with pigment metabolism;
The breakdown of hemoglobin;
Articular deformities may be observed.

Without red blood cells, hemoglobin becomes a real toxic substance. When it affects the body, you can notice signs such as:

subtlety skin;
Acquisition of brown skin;
The active effect of the sun on the skin - it causes discomfort;
Scars and ulcers on the skin;
Deformation auricles and nose;
Ulcers on the face;
A strange grin - it is often called a vampire, because. teeth become reddish.

Other signs indicating the development of pathology include:

Pale skin color;
Constant weakness.

Symptoms clearly begin to manifest themselves in the first year of a child's life. Often they are especially brightly visible at night. The development of the pathology of the baby may indicate:

Hypersensitivity;
Manifestations of defects on the skin, resembling burns;
The appearance of itching of the skin, which can be very painful;
redness of the urine;
Active growth of body hair;
Enlargement of the spleen.

The destruction of red blood cells in the bone marrow is said to be vampire-like. This disease is incurable. And before they tried to improve the condition of the patient to give him fresh blood. Naturally, this theory does not stand up to scrutiny.

The patient develops a fear of the sun, because the sunlight makes him worse. Due to the high photosensitivity, severe burns appear on the skin

As the disease progresses and progresses, a person's appearance begins to become disfigured - the face becomes covered with ulcers, the skin begins to dry out and tighten, which causes deformation of the lips. Against this background, incisors appear, which gives the patient's face an even more awesome look.

With Gunther's disease, the eyes also suffer, as a result of which the visual function rapidly deteriorates - a person can go blind.

If we divide the manifestations of pathology into various organs of the body, then they will look like this:

On the part of the skin: photosensitivity, the appearance of vesicles and blisters, increased skin fragility, hypertrichosis of the face and hands, papules in the nasolabial zone;
Mouth: Teeth may glow under a Wood's lamp as they dentin accumulates on enamel;
Urine: the appearance of pink spots on the linen;
Eyes: blepharitis, scarring, conjunctivitis, red tint of the sclera of the eyes, scarring of the corneas;
Skeletal system: thinning of the bones, deformities, frequent fractures, the acquisition of an orange-red hue by the bones due to the accumulation of porphyrins on them.

How to determine

Patients with this pathology are clearly visible. In this case, the diagnosis is made on the basis of a family history and an external examination. To confirm the theory, a blood test is taken for the content of porphyrins and red blood cells.

Treatment of pathology

This disease is, like many other hereditary pathologies, incurable. For this reason, physicians tend to use symptomatic therapy. The list of measures includes the following methods:

Protection of the skin from ultraviolet radiation: during the day, you should use special clothing that reliably protects from sunlight, while exposed areas of the skin should be lubricated with a cream with a high degree protection against UV rays;
Taking cholestyramine, beta-carotene and activated carbon: such components can interrupt the reabsorption of porphyrins, but there is a caveat: they should be taken in such dosages that it is fraught with overdoses, so therapy often has to be interrupted;
Carrying out blood transfusions: transfusion of red blood cells and whole blood can improve a person’s condition for some time, however, there is also a risk of complications;
Splenectomy: the need to resort to removal of the spleen is due to the fact that in this way it is possible to reduce the severity hemolytic anemia, but the effect of the operation does not last long, after which the breakdown of red blood cells begins again;
Reception ascorbic acid and alpha-tocopherol, i.e. vitamin E: such products have a high antioxidant effect, due to which they slow down the rate of damage to body tissues.

Today, various treatment options for such patients are being tried. For example, transplantation of bone marrow and stem cells showed a high effect. But still, this method in conjunction with Gunther's disease has not yet been fully explored.

A task such as bone marrow transplantation in a person with Gunther's disease is considered extremely difficult. After all, here, as in no other situation, a very careful choice of a donor is required. There is a proposal to use cord blood stem cells, but here the choice of an ideal donor is an almost impossible task.

So at this stage, therapy is only symptomatic, and without options. Therefore, it is necessary to strictly follow all the recommendations and instructions of the doctor.

Complications of pathology

Must be taken into account possible consequences Problems. Among the problems that may arise against the background of Gunther's disease, a whole list:

Hemolytic anemia: a disease in which there is a low cycle of life expectancy of red blood cells, due to which anemia develops;
Sprenomegaly: against the background of an increase in the spleen, its functions begin to be disturbed;
Liver failure;
Infection and bacterial infections that appeared against the background of wounds and ulcers on the skin;
Blindness due to changes in the structures of the eye.

Disease predictions

It is often believed that patients with such a pathology do not live long - they do not even go beyond adolescence. However, experts are confident that if competent prevention is used, it is possible to significantly lengthen the life of a carrier of such a recessive gene and even improve its quality.

Today average duration the life of a person with Gunther's disease is 40-60 years.

See what is this pathology, what myths surround her, how people live with her, you can from the following video:

Preventive actions

In essence, the entire treatment of Gunther's disease is one big prevention. In addition, the possibility of closely related marriages will have to be excluded. After all, it is the hereditary factor, enhanced by the birth disease, that causes the development of the disease.

A prerequisite for prevention is the constant monitoring of the doctor - he will be able to advise something if the condition worsens. Avoid constant exposure to the sun.

Parents who suspect they are carriers of this gene should go through necessary examinations. And if there is a positive result, think well about a potential pregnancy, because. the risk of passing on the broken gene is quite high.

Gunther's disease is one of the most mysterious diseases that turns the life of a person with this pathology into a nightmare. But even despite all the difficulties, you should not ignore medical recommendations. After all, with their help, you can significantly alleviate the condition of the patient.

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Treatment

Treatment of erythropoietic porphyrias is a difficult task in most cases, requiring an individual approach and complex therapy. Cord blood stem cell transplantation has been proposed, but, unfortunately, the chances of finding the right donor are zero.

Illness in television series

In the television series Black Lagoon, Lucia's son Thomas is ill with Gunther's disease.
In the television series "Closed School" the boy Danila, the son of Tamara (school doctor), has Günther's Disease.
In the 2nd season of the X-Files series, part 7, it tells about three young people who are sick with Gunther's disease in a very strong, hypertrophied form.
"Dark Side of the Sun" 1997
In the television series House M.D. (Season 3, Episode 9), Dr. Robert Chase diagnosed Alice with erythropoietic protoporphyria.

Notes

Wikimedia Foundation. 2010 .

See what "Gunther's Disease" is in other dictionaries:

Günther's disease erythropoietic porphyria. A rare autosomal recessive defect leading to chronic photosensitivity, skin lesions, and hemolytic anemia. Those affected by Gunther's disease avoid light because it causes a burning sensation, they have ... ... Wikipedia

- (N. Gunther, 1884 1956, German therapist) see Uroporphyria erythropoietic ... Big Medical Dictionary

A patient with porphyria ICD 10 E ... Wikipedia

Vampire painting by Philip Burne Jones, 1897 This article is about vampires from folklore and legend. For vampires in fiction, see Vampires in Art. For real bats that feed on blood, see Vampires (mammal) ... Wikipedia

277.1

Treatment

Illness in television series

In the television series Black Lagoon, Lucia's son Thomas is ill with Gunther's disease.
In the television series "Closed School" the boy Danila, the son of Tamara (school doctor), has Günther's Disease.
In the 2nd season of the X-Files series, part 7, it tells about three young people who are sick with Gunther's disease in a very strong, hypertrophied form.
"Dark Side of the Sun" 1997
In the television series House M.D. (Season 3, Episode 9), Dr. Robert Chase diagnosed Alice with erythropoietic protoporphyria.

Notes

Wikimedia Foundation. 2010 .

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See what "Gunther's Disease" is in other dictionaries:

Gunther's disease- Günther's disease erythropoietic porphyria. A rare autosomal recessive defect leading to chronic photosensitivity, skin lesions, and hemolytic anemia. Those affected by Gunther's disease avoid light because it causes a burning sensation, they have ... ... Wikipedia

Gunther's disease- (N. Gunther, 1884 1956, German therapist) see Uroporphyria erythropoietic ... Big Medical Dictionary

porfiria- A patient with porphyria ICD 10 E ... Wikipedia

In mythology, the Vampire

Vampire- Vampire painting by Philip Burne Jones, 1897 This article is about vampires from folklore and legend. For vampires in fiction, see Vampires in Art. For real bats that feed on blood, see Vampires (mammal) ... Wikipedia

Vampera- Vampire painting by Philip Burne Jones, 1897 This article is about vampires from folklore and legend. For vampires in fiction, see Vampires in Art. For real bats that feed on blood, see Vampires (mammal) ... Wikipedia

Vampire, in mythology- Vampire painting by Philip Burne Jones, 1897 This article is about vampires from folklore and legend. For vampires in fiction, see Vampires in Art. For real bats that feed on blood, see Vampires (mammal) ... Wikipedia

Vampiress- Vampire painting by Philip Burne Jones, 1897 This article is about vampires from folklore and legend. For vampires in fiction, see Vampires in Art. For real bats that feed on blood, see Vampires (mammal) ... Wikipedia

Vampire in mythology- Vampire painting by Philip Burne Jones, 1897 This article is about vampires from folklore and legend. For vampires in fiction, see Vampires in Art. For real bats that feed on blood, see Vampires (mammal) ... Wikipedia

Vopar- Vampire painting by Philip Burne Jones, 1897 This article is about vampires from folklore and legend. For vampires in fiction, see Vampires in Art. For real bats that feed on blood, see Vampires (mammal) ... Wikipedia

Günther's disease (congenital erythropoietic porphyria) is a rare hereditary disease in which there is a violation of pigment metabolism and accumulation of nitrogen-containing pigment (porphyrin) in the tissues. With this disease, late stages the appearance of patients is disfigured.

Günther's disease occurs in 1 in 1,000,000 newborns. The incidence rate is somewhat higher among the rural population of Transylvania. Scientists explain this fact by the fact that closely related marriages are still common in the named region.

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Causes and risk factors

Günther's disease is a genetic disease inherited in an autosomal recessive manner, that is, for its occurrence, the child must receive an altered gene from both the mother and father. At the same time, the parents of the sick child are healthy, but they are carriers of the mutated gene.

The prognosis for Gunther's disease is unfavorable. Most patients die before reaching adolescence.

The mutation causing the development of congenital erythropoietic porphyria is localized in the locus 10q26.1-q26.2 of the long arm of the 10th chromosome. It leads to insufficiency of the enzyme uroporphyrinogen III synthase, as a result of which heme metabolism is disturbed, and the photosensitivity of the skin is also significantly increased.

The main factor that increases the risk of having a child with Gunther's disease is closely related marriages.

Symptoms

Gunther's disease in most cases manifests itself in sick children already in the first year of life. Her symptoms:

red-bloody color of urine;
increased body hair (hypertrichosis);
high photosensitivity of tissues;
red staining of teeth (erythrodontia);
hemolytic anemia;
enlargement of the spleen, and in some cases, the liver.

In the later stages of the disease, the appearance of patients is disfigured beyond recognition. Their faces are covered with sores. The skin in the paraoral region dries out and tightens, resulting in deformity of the lips and exposure of red-brown incisors.

In patients with Gunther's disease, the structures of the eye are often damaged, which subsequently leads to a significant deterioration in visual function up to its complete loss, that is, blindness.

The high photosensitivity of the skin to ultraviolet radiation, which can cause severe burns, causes patients to try to stay in a room with darkened windows during the daytime, being active at night.

Eating spicy foods, including garlic, causes pain in altered areas of the skin.

All these signs formed the basis of numerous legends about vampires - terrible creatures that come out at night to drink blood and are afraid of garlic.

Diagnostics

Diagnosis of Gunther's disease is carried out on the basis of characteristic clinical picture and family history. To confirm the diagnosis, a series of laboratory tests are performed to determine the content of porphyrins and red blood cells in the blood.

Günther's disease occurs in 1 in 1,000,000 newborns.

Treatment

Gunther's disease is incurable, therapy is aimed at alleviating the symptoms:

Protection of the skin from sunlight. To do this, patients during daylight hours must constantly wear special sun-protective clothing, as well as lubricate open areas body sunscreen, which includes reflective agents (titanium dioxide, zinc oxide).
Reception of cholestyramine, activated carbon, beta-carotene. These substances allow you to interrupt the reabsorption of porphyrins, but for this they must be taken in high doses, which leads to the development side effects(interruption of therapy and correction will be required).
Blood transfusions. Transfusions of red blood cells and whole blood improve the condition of patients for some time. The limitation is that a regular regimen of blood transfusions has the risk of developing dangerous complications.
Splenectomy. Removal of the spleen can reduce the severity of hemolytic anemia. However, the effect of this operation does not last long, and after a while the breakdown of red blood cells resumes.
Taking ascorbic acid (vitamin C) and alpha-tocopherol (vitamin E). These vitamins have powerful antioxidant effects. Their appointment allows you to slow down the rate of damage to the tissues of the patient's body by free radicals.

Several cases of successful use of transplantation (transplantation) of red bone marrow and stem cells are described in the scientific literature. However, the long-term results of the mentioned method in relation to Gunther's disease are unknown.

The main factor that increases the risk of having a child with Gunther's disease is closely related marriages.

Possible complications and consequences

In patients with Gunther's disease, the structures of the eye are often damaged, which subsequently leads to a significant deterioration in visual function up to its complete loss, that is, blindness.

Forecast

The prognosis for Gunther's disease is unfavorable. Most patients die before reaching adolescence.

Prevention

There is no specific prevention of the onset of Gunther's disease. Closely related marriages should be avoided. At the birth of a sick child, as well as in the presence of cases of this disease among close relatives, a married couple should be sent for medical genetic counseling.

Video from YouTube on the topic of the article: