Progeria (Greek progērōs prematurely aged) is a pathological condition characterized by a complex of changes in the skin and internal organs caused by premature aging of the body. The main forms are childhood progeria (Hutchinson-Guildford syndrome) and adult progeria (Werner syndrome).
Childhood progeria is very rare. The etiology and pathogenesis are not known. In most cases, it occurs sporadically, in several families it is registered in siblings, incl. from consanguineous marriages, which indicates the possibility of an autosomal recessive type of inheritance. In the patients' skin cells, violations of DNA repair and cloning of fibroblasts, as well as atrophic changes in the epidermis and dermis, and the disappearance of subcutaneous tissue were found. Although pediatric P. may be congenital, in most patients, clinical signs usually appear in the 2-3rd year of life. The growth of the child is sharply slowed down, atrophic changes in the dermis, subcutaneous tissue, especially on the face and limbs, are noted. The skin becomes thinner, becomes dry, wrinkled, on the trunk there may be scleroderm-like foci, areas of hyperpigmentation. Veins shine through the thinned skin. The patient's appearance: a large head, frontal tubercles protrude above a small pointed ("bird") face with a beak-shaped nose, the lower jaw is underdeveloped. Muscle atrophy, degenerative processes in teeth, hair and nails are also observed; there are changes in the osteoarticular apparatus, myocardium, hypoplasia of the genital organs, impaired fat metabolism, lens opacity, atherosclerosis.
Lena ages five years in a year
Yesterday in a Moscow clinic, doctors performed the first operation on a patient suffering from premature aging syndrome
Andrey RODKIN, Photo by Ramil GALI. - 23.03.2005
Lena's voice is young and sonorous, her movements are girlishly impetuous, and most importantly, her eyes are bright and fresh. Only very sad … Lena is aging rapidly. This happens, rarely, but it happens to young people.
- At first, my earlobes began to hang down somehow strangely. Then I noticed strikingly deep wrinkles between the eyebrows, - says the 23-year-old girl.
At the first glance at Lena Melnikova, you even begin to doubt. But how is this cunning bored 40 - 50-year-old lady who longed for widespread fame and plastic surgery from the best surgeons ?! Unfortunately, this has already happened.
You can't even ask Lena about her personal life … Although the girl smiles courageously:
- Everything is fine.
Lena has practically no chance. Diagnosis: "premature aging syndrome" ("progeria"). Medical luminaries around the world claim that from the moment of illness, people live on average only 13 years. And how to return youth or at least calm old age, no one knows …
Lena started showing terrible symptoms five years ago. First, the face has aged, and then the skin of the whole body. Elena then studied at the 1st year of the Mari Polytechnic Institute.
- You know, it was a shame … The guys come up to get acquainted with my friend and they treat me with emphasis politely, they take my mother for me. Almost permission was asked to meet with "daughter".
After graduating from the Mari Polytechnic University, the girl decided on plastic surgery. But the banal circular facelift did not help. Only left scars on the neck and temples. The mysterious aging process continued. Local doctors were able to advise Elena only one thing - to take vitamins and be constantly monitored.
The girl - by the way, a certified engineer-architect - did not despair and went to Moscow. Melnikova became interested in the expensive capital clinic of plastic surgery "Beauty Plaza". Its experts decided to help a provincial woman in trouble. And it's completely free.
- We decided to try. If it is generally accepted that nothing can be done, then you should at least try, - said the leading surgeon of the clinic, Doctor of Medical Sciences, Professor Alexander TEPLYASHIN on the eve of the operation. - Although it is not safe for Elena to operate, because the disease could affect the state of internal organs.
- She's so young! She needs to live normally, to communicate with young people. First, we will make a face, and then we will begin to fight the disease at the genetic level,”Professor Teplyashin is full of determination.
“I really trust the professor,” Elena Melnikova persistently convinces us. It is very likely that she also convinces herself.
Elena arrived at the clinic yesterday morning. They began to prepare her for the operation. Allocated a separate room, where she waited. For now, Professor Teplyashin is also preparing for his very difficult job. A quarter of an hour before the operation, Elena is calm.
“I'm not afraid of anything,” she repeats and repeats everything. And in the end he still sobs. Some time ago, the girl was seriously thinking about taking her own life.
The time has come for the operation. Lena gets up and, looking straight ahead, strides with an emphatically firm gait into the bowels of the clinic.
Suddenly she pauses for a minute and turns clearly more to herself than to those around her: “I was very afraid of this first operation, and now I have the second. And I have no choice. My last hope . - And resolutely strides to the anesthesiologist.
Promotional video:
The doctors of the clinic allowed the photographer "KP" into the holy of holies - the operating room of aesthetic surgery.
The first stage of the operation is the breast. The doctor cuts the skin on the chest and prepares a special bioimplant.
The composition is one of the secrets of the clinic. The main thing is no foreign silicone. Like a dough, Professor Teplyashin vigorously kneads the implant so that the pliable material almost seeps between his fingers. Finally, it is placed in the body.
The second and main stage is the face. And the first difficulty here is to eliminate the scars and imperfections of the previous plastic surgery. The sight is not for the faint of heart. But everything seems to be going well …
After Lena Melnikova undergoes a special rehabilitation course in the clinic, geneticists and cell biologists will develop an individual biotechnological treatment program specially for her, which should end with an injection of stem cells. These cells are supposed to expel old age from a young body …
Once upon a time the beautiful and intelligent 18-year-old student Melnikova had many admirers. But when the disease began to develop, there was only one who really loves. The girl does not mention his name, but she is sure that he is very worried and is waiting for her in Yoshkar-Ola. In the meantime, in Moscow, an unemployed engineer-architect Melnikova lives with her brother.
"Komsomolskaya Pravda" will definitely follow the fate of this girl.
THE DOCTOR'S COMMENTARY
How can medicine help Lena?
Mikhail VINOGRADOV, professor:
- Progeria is a very rare disease. According to statistics, in the world with a similar genetic defect, about 1 person in 4 million is born.
In my medical practice, I had to meet with three such patients. These young people had early sclerosis and senile mental disorders … But I must say that we do not conduct any large-scale studies of this particular problem.
Most likely, in our country there are slightly more than 30 people suffering from premature aging. This is not a hereditary disease, it is likely that the defect forms during the developmental stage of the fetus. Otherwise, this disease is called Werner's syndrome. With him, until adolescence, a person develops absolutely normally. But as soon as the period of growth of the organism ends - somewhere by the age of 20 - the breakdown of the gene mechanism becomes obvious.
It cannot be said that some organ falls ill - natural depletion of all life support systems begins.
No cure for Progeria has been invented yet. At this stage, you can slow down the process using all scientific advances, but it is still irreversible.
Old girl had her first rejuvenation surgery
With the permission of the doctors and the patient herself, KP correspondents were next to the surgeons.
- I'm not afraid of anything. And I don't worry at all. I really believe the professor,”Elena Melnikova persistently convinces us. It is very likely that she also convinces herself. Lena has already undergone plastic surgery in the past, but it did not help her.
Yesterday "Komsomolskaya Pravda" first spoke about this phenomenon (see the article "Lena is five years old in a year"). A native of Yoshkar-Ola, Elena Melnikova at the age of 18 (now she is 23) noticed that she began to fade. The diagnosis turned out to be terrible: "progeria", or "premature aging syndrome."
Premature aging syndrome was first discussed 100 years ago. And not surprisingly, such cases occur once in 4-8 million babies. Progeria (from the Greek pro - earlier, gerontos - old man) is an extremely rare genetic disease that accelerates the aging process by about 8-10 times. Simply put, a child ages 10-15 years in one year. An eight-year-old looks at 80 years old - with dry wrinkled skin, bald head … These children usually die at 13-14 years old after several heart attacks and strokes against the background of progressive atherosclerosis, cataracts, glaucoma, complete loss of teeth, etc. And only a few live to be 20 years or longer.
Now in the world there are only 42 known cases of human disease with Progeria … Of these, 14 people live in the United States, 5 in Russia, the rest in Europe …
Among the features of such patients are dwarf growth, low weight (usually not exceeding 15-20 kg), excessively thin skin, poor joint mobility, an underdeveloped chin, a small face in comparison with the size of the head, which gives a person a kind of birdlike features. Due to the loss of subcutaneous fat, all vessels are visible. The voice is usually high-pitched. Mental development is age appropriate. And all these sick children are strikingly similar to each other.
12-year-old Seth Cook looks like an 80-year-old man. He has no hair, but he has a full range of diseases that the elderly suffer from. Therefore, the boy takes aspirin and other blood thinners every day. At 3 feet (just over a meter), Seth weighs 25 pounds (11.3 kg).
Ourrie Barnett was born on April 16, 1996. Already at the age of five, poor Ouri began coronary heart disease. The attacks followed one after another. The kid often ended up in the hospital, but he had to be treated with the means that are usually prescribed for the elderly.
Ourry looked like a stroke survivor: his legs were weak and he began to stumble like a decrepit old man. His eyes were fading, his upper lip did not move, saliva flowed, speech became illegible.
Oury's mother did a lot to convey to people her experience and her observations of the unfortunate child. From the age of three, the baby was taken to the shooting of television programs and scientific conferences. The only condition that the mother set for the sensationalist journalists was that they should not write that the baby was dying of progeria.
The most famous case of Progeria, described in the Russian press, is the story of Alvydas Gudelyauskas, who suddenly began to age as a 20-year-old boy. In just a few months, Alvydas turned into a 60-year-old man before our eyes. It was only after plastic surgery that he began to look like a mature man. In the photo on the left - this is how he looked before the operation, on the right - after. Now Alvydas is only 32 years old.
Until recently, doctors were unable to determine the cause of the disease. It is only recently that American researchers have discovered that only a single mutation is the cause of Hutchinson-Guildford's "childhood old age" or progeria.
According to the director of the National Institute for Genome Research, Francis Collins, who led the study, the disease is not hereditary. A point mutation - when only one nucleotide is changed in a DNA molecule - occurs anew in every patient. People suffering from progeria die mainly from those ailments that are characteristic of extreme old age. It has now been found that a mutated form of the LMNA gene causes Progeria.
Seven year old man and his family
Rehena (left), Ali Hussein and Ikramul suffer from a rare disease
He is only seven years old, and he is already going bald
This is the most noticeable of the many symptoms of the disease that Ali Hussein Khan suffers from. He is still a boy, but he is already in middle age
This is Progeria, an extremely rare disease that causes Ali's body to age prematurely.
Neither he nor his sister and brother - 19-year-old Rehena and 17-year-old Ikramul - have virtually no chance of living to 25.
This disease speeds up the development of children many times over. However, it also causes other problems: for example, a second row of teeth appears in their mouths, and the skin becomes very pale, almost transparent.
Hero and Doctor
I would like to be an actor, drive cars and planes, be an action hero
Ali Hussein Khan
Such children fall ill with what ordinary people suffer in old age. Last year, their sister Ravena, who also suffered from progreria, died of pneumonia. She was 16.
But as soon as Ali Hussein begins to speak, it becomes clear that he is seized with childish enthusiasm and absorbed in hopes that are not typical for an adult.
“I would like to be an actor, drive cars and planes, be an action hero,” he says. "Well, then I would like to become a doctor, because doctors check me all the time, and I would like to check myself, and therefore I would like to become a doctor someday."
In the world, there are only 48 cases of this disease, which is otherwise called Hutchinson-Guildford disease.
Khans is unique in this sense: this is the only case known to science when more than one family member suffers from progreria. And thanks to this family, scientists were able to make a real breakthrough in understanding the nature of the disease.
Scientists, led by pediatrician Chandan Chattopadhyaya, observed Hanami for two years and concluded that the disease is hereditary and recessive. This means that both parents can have her gene.
In this case, Hana's husband and wife are cousins to each other. None of them have progreria, like their other two children, 14-year-old Sangita and 2-year-old Gulavsa.
Father's fears
In recent years, the family has been looked after by a charity in Calcutta. The head of the family, Bisul Khan, says that life has been cruel to him and his wife Rajia.
Both of them are natives of one of the villages in the Indian state of Bihar. The locals called their children aliens, and as a result, they had to grow up in complete isolation.
“When we lived there, in Bihar, every evening we sat in a room, unable to sleep, because one of the children was tormented by something, then the other,” recalls Khan. - And we thought - me and my wife, we sat side by side and thought: how can we continue to live? We even thought about ending it all in one fell swoop …"
“But now the children live,” says the father. "They are energetic, they are happy, they live as normal a life as possible, of course."
Help
For the past two years, Hanami has been looked after by Sekhar Chattopadhyay, head of the SSB Devi Charitable House in Kolkata.
They now live in this city, although their exact address is kept secret.
A charitable organization helped my father find a job as a security guard, but his salary is small, so they are also helped financially. But no less important than money are those normal human contacts that children have acquired with the help of a charitable organization.
“We support them and we have become friends,” Chattopadhyay says and throws Ali Hussein on his knee. "Little by little, I became friends with this family, and you just have no idea how much they love me."
Thanks to his support, the Khans say, they now live much fuller lives than before.
They smile when they talk about their interests and hobbies.
Rehena says she loves Indian films, especially passionate love songs. When I ask if she sings herself, she says that she is shy, but still it is clear that she wants to demonstrate her abilities, and, having received approval, agrees to try.
“I love to love you and when I don’t see you I can’t wait to meet again,” she sings in Hindi.