Childhood old age disease. Premature aging syndrome

No matter how incredible it may seem, progeria actually triggers premature aging mechanisms in a young body. Officially, the disease was named after the scientists who first described and studied the pathology: in children it is Hutchinson-Gilford syndrome, in adults it is Werner syndrome.

Progeria occurs several times more often in boys than in girls. On average, patients live from 10 to 13 years (in exceptional cases up to 20): a fatal disease, unfortunately, does not give a chance for recovery and long years life. Such children are noticeably behind in physical development from healthy peers, but this is not all the “charms” of progeria. Severe exhaustion body, violation of the structure of the skin, lack of secondary signs sexual development and hair, underdeveloped internal organs and the appearance of the old man as a whole - this is the burden that falls on the shoulders of the unfortunate child.

IN mental development the child is absolutely adequate, his body retains childlike proportions, but at the same time, the epiphyseal cartilage quickly overgrows and in its place an epiphyseal line appears - everything is like in an adult. Rapidly growing children are forced to face far from childhood problems associated with progeria: atherosclerosis, stroke, and various heart diseases.

Causes of pathology

Unfortunately, experts have not yet examined the real face of the “enemy” in detail. As a result of lengthy research, scientists were able to find out that the basis of the pathology is most likely a mutation of the lamin gene (LMNA), which is directly related to the process of cell division. A failure in the genetic system deprives cells of resistance and triggers unexpected aging mechanisms in the body.

Progeria, unlike many other diseases of genetic etiology, is not inherited, that is, it appears completely by accident, and none of the parents of a sick child can be called a carrier of the pathology.

Symptoms of the disease

Immediately after birth, children carrying the deadly progeria gene cannot be distinguished from healthy babies. Already by the first year of life, numerous symptoms of the disease make themselves felt fully. Among them:

1. Visible lack of body weight, very short stature.
2. Lack of hair on the head, eyelashes and eyebrows.
3. Absence subcutaneous fat and lack of tone in the skin - it is weak and wrinkled.
4. A bluish tint to the skin.
5. Skin hyperpigmentation.
6. Strongly protruding veins under the skin on the head.
7. Disproportional development of the bones of the face and skull, small lower jaw, bulging eyes and protruding ears, hooked nose - the child has a “bird-like” facial expression. It is this set of specific features that makes him look like an old man.
8. Late appearance of teeth that quickly deteriorate.
9. The voice is shrill and high.
10. Pear-shaped rib cage, small collarbones, “tight” knees and elbow joints, which, due to poor mobility, force the patient to be in the “rider” position.
11. Yellow convex nails are “watch glasses”.
12. Sclera-like formations on the skin of the buttocks, thighs and lower abdomen.

After a child suffering from progeria celebrates his fifth birthday, his body begins an inexorable development process, in which the aorta, mesenteric and coronary arteries are especially affected. Against the background of these disorders, the appearance of heart murmurs and left ventricular hypertrophy is noted. The complex effect of these disorders on the body is considered one of the reasons for the short life of patients with progeria. The main factor in the sudden death of patients is also called ischemic stroke.

Progeria in adults

The disease can suddenly overtake an adult at the age of 14-15 to 18 years. The patient begins to lose weight, be stunted, turn gray and gradually go bald (progressive alopecia). The skin of a person with progeria becomes thinner, loses all its colors, acquiring an unhealthy pale tint. Underneath, a network of blood vessels is clearly visible, subcutaneous fat and muscles completely atrophy, so the arms and legs appear very thin.

In patients over 30 years of age, both eyeballs affects, the voice weakens, the skin over the protrusions of the bones becomes rough and covered with ulcers. Those suffering from progeria look the same: short stature, moon-shaped face, nose resembling a bird's beak, narrow mouth, sharply protruding chin, dense body and thin dry limbs, disfigured by numerous pigment spots. The disease unceremoniously interferes with various systems of the body: the work of sweat and sebaceous glands, the normal activity of the cardiovascular system is distorted, the body suffers from calcification, osteoporosis and erosive osteoarthritis. Unlike young patients, in adults the disease has a detrimental effect on intellectual abilities.

About 10% of patients by the age of forty are faced with such terrible diseases as sarcoma, astrocytoma, and melanoma. Oncology develops against the background of diabetes mellitus and impaired functions parathyroid glands. Immediate cause the deaths of patients with progeria in most cases are malignant tumors and cardiovascular pathologies.

Diagnosis of the disease

The external symptomatic manifestations of the pathology are so vivid and eloquent that the disease is diagnosed based on the clinical picture.

Treatment of the disease

MirSovetov is forced to admit that, unfortunately, there is no panacea for progeria. All treatment methods that are used today are also not always effective. However, doctors do everything that depends on them. So, all patients are under regular medical supervision, because by monitoring the state of the cardiovascular system, it is possible to timely detect the development of complications of a particular “heart” disease.

All treatment methods pursue a single, but vital goal - to “freeze” the disease, not allow it to worsen and alleviate the patient’s condition as far as possible modern medicine. How can specialists help?

1. The use of minimal doses that can protect a person from possible heart attack or .
2. The use of other medications that are prescribed individually, based on the condition of each individual patient. For example, drugs from the statin group reduce increased level cholesterol in the blood, and so-called anticoagulants block the formation of blood clots. Growth hormone is often used to “increase” height and weight.
3. The use of physiotherapeutic procedures that work out joints that bend with difficulty, allowing a person to remain active. What could be more important for young patients?
4. Removal of baby teeth. The specificity of the disease contributes to early teething permanent teeth in children, while dairy products spoil very quickly, so they need to be removed in a timely manner.

Prevention of the disease has not yet been developed.

What is progeria, what are its signs and consequences? How is the disease diagnosed and what treatment is available today?

Hutchinson-Gilford Progeria syndrome (HGS) is a rare, fatal genetic disorder characterized by sudden, accelerated aging in children and affects one in 8 million children worldwide. The name of the syndrome comes from the Greek word and means “premature aging.” Although there are various shapes progeria, classic type Hutchinson-Gilford syndrome Progeria was named after the doctors who first described the disease, in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Guilford.

Today it is known that CSGP is caused by a mutation in the LMNA (Lamin) gene. The LMNA gene produces the protein lamin, which holds the cell nucleus together. Researchers believe that a defective lamin protein makes cell nuclei unstable. And it is this instability that starts the process premature aging.

Children with this syndrome appear healthy at birth; the first physical signs of the disease may appear at the age of one and a half to two years. This cessation of growth, loss of weight and hair, protruding veins, wrinkled skin - all this is accompanied by complications more typical for older people - joint stiffness, generalized atherosclerosis, osteoporosis, cardiovascular diseases, stroke. Children with this condition have a remarkably similar appearance despite their different ethnic backgrounds. Most often, children with progeria die from (heart disease) at an average age of thirteen years (range from about 8 to 21 years).

There is also “adult” progeria (Werner syndrome), which begins in adolescence(15-20 years old). The life expectancy of patients is reduced to 40-50 years. Most common reasons fatal outcome are myocardial infarction, stroke and malignant tumors. Scientists cannot determine the exact cause of the disease.

Who is at risk?

Although progeria is a genetic disease, in the classical sense of Hutchinson-Gilford syndrome, it is not hereditary, i.e. None of the parents are either carriers or affected. Each case is thought to represent a sporadic (random) mutation that occurs in either the egg or sperm before conception.

The disease affects all races and both sexes in equally. If a couple of parents have one child with CSGP, the chance that a second child will be born with the same condition is 1 in 4 to 8 million. There are other progeric syndromes that can be passed on from generation to generation, but not classic CSGP.

How is progeria diagnosed?

Now that this gene mutation has been identified, the Progeria Research Foundation has developed diagnostic testing programs. It is now possible to confirm the specific genetic changes or mutations in a gene that lead to CSGP. After an initial clinical assessment (child's appearance and medical documentation), a blood sample is taken from the child for testing. A definitive scientific method for diagnosing children is currently being developed. This will lead to more accurate and more early diagnosis, which will help ensure that children with this mutation receive proper care.

What treatment is available for children with progeria?

A seemingly ordinary form psychological state- phobic anxiety, causes cell damage and leads to premature aging.

To date, only a few options are available to optimize the quality of life of children with progeria. Treatment includes continuing care, cardiac care, special food and physical therapy.

Over the past few years, encouraging research data has been published describing the potential drug treatment for children with progeria. Scientists believe that farnesyltransferase inhibitors (FTIs), originally developed to treat cancer, may reverse the structural abnormalities that cause progeria in children.

26 children took part in drug trials—that’s a third of all known cases progeria. Children taking the drug showed a 50% increase in annual weight gain. Density also improved in children bone tissue before normal level, and a 35% reduction in arterial stiffness, which is associated with high risk heart attack. The researchers emphasize that thanks to the new development, damage to blood vessels is not only reduced, but also partially restored over the period.

All people get old. According to scientists, if not for the destructive impact external environment and our destructive addictions to pleasures harmful to the body, we would live to be 130, or even 150 years old. And 16 years ago, on August 29, 2001, scientists even announced that they had found a longevity gene. So, perhaps, in the near future we will be able to live out the entire lifespan allotted to us by nature. But for now, we are aging and dying, the vast majority before the age of 80-90. And some diseases shorten this already not so long period by several times. And the most “killer” among them, in the literal sense of the word, is progeria. We found out what it’s like to grow old in one and a half to two decades.

Aging is a natural process characteristic of every living organism on Earth. All existing theories on the topic “Why do people age?” can be divided into two large groups. Proponents of one of them argue that aging was intended by nature for the further evolution of species and society. Others are sure that there are no global plans here - simply damage at the gene and cellular level accumulates over time, which leads to wear and tear of the body.

One way or another, but indeed during the course of a person’s life, the results of internal failures and errors accumulate in his cells and tissues, as well as the consequences external influences. Among key factors aging are the following:

• Impact active forms oxygen (ROS), which, of course, our body needs, but not always and not everywhere.
• Mutations in the DNA of somatic cells (that is, body cells). The genome is not a structure frozen in time and space. It is a living and changeable structure.
• Accumulation of damaged proteins, which are by-product the effects of ROS or disruptions in metabolic processes.
• Shortening of telomeres - the end sections of chromosomes. True, in Lately Scientists have begun to doubt that aging is related to telomeres, but so far this theory is still popular.

Progeria, which will be discussed in this article, is not aging - in the sense in which science understands it when it talks about life expectancy, wear and tear of the body, etc. This disease looks like aging, although in fact it is severe a genetic disease associated with impaired production of certain proteins.

Progeria - diseases of children and adults

The Englishman Jonathan Hutchinson in 1886 first described a 6-year-old child in whom he observed skin atrophy. And the name of the unusual disease (from the Greek word “progeros” - old before its time) was given to it in 1897 by Dr. Guilford, who was studying and describing the nuances of the disease. And in 1904, Dr. Werner published a description of adult progeria - using the example of four brothers and sisters who suffered from cataracts and scleroderma.

It is believed that Francis Scott Fitzgerald wrote his story “The Curious Case of Benjamin Button” in 1922 precisely under the impression of information about progeria patients. In 2008, Brad Pitt played the main character of the book in the film Misterious story Benjamin Button."

There are two types of progeria:

• A disease that affects children is Hutchinson-Gilford syndrome.

This is a rare pathology. It occurs in 1 child out of several million. It is believed that in the world today there are no more than a hundred people suffering from childhood progeria. However, scientists suggest that we can talk about about 150 more undiagnosed cases.

• A disease that affects adults is Werner's syndrome.

It is too rare disease, but not as much as childhood progeria. People with Werner's syndrome are born in 1 case in 100 thousand. In Japan - a little more often: 1 case per 20-40 thousand newborns. In total, a little less than 1.5 thousand such patients are known in the world.

Childhood progeria is only indirectly related to actual aging. This is a disease from the group of laminopathies - diseases that develop against the background of a problem with the production of the lamin A protein. If it is not enough, or the body produces the “wrong” lamin A, then one of a whole list of diseases develops, which includes Hutchinson-Gilford syndrome.

The cause of childhood progeria is a mutation in the LMNA gene, which is located on chromosome 1. This gene encodes the compound prelamin A, which produces the protein lamin A, which forms the thin laminae covering the inner membrane of the nucleus. It is necessary for anchoring all kinds of molecules and internal structures of the nucleus. If lamin A is missing, the internal framework of the cell nucleus cannot be built, it cannot maintain stability, which leads to accelerated destruction of cells and the entire organism. In addition, lamin A plays a key role in cell division. It regulates the breakdown and restoration of the cell nucleus. It's not hard to imagine what can happen if this protein is missing or not what it should be. Mutation of the LMNA gene leads to the formation of the “wrong” protein - progerin. This is what causes the accelerated “aging” of children.

According to the latest data, the mutation occurs at early stages development of the embryo and is almost never transmitted from parent to child.

Several years ago, scientists discovered that progerin is also produced by healthy cells, but in significantly smaller quantities than in Hutchinson-Gilford syndrome. Moreover, it turned out that with age, progerin normal cells getting bigger. And this is the only thing that really connects childhood progeria and the aging process.

Adult progeria is the result of another mutation, in the WRN gene. This gene encodes a protein necessary to maintain chromosomes in a stable state, and is also involved in the processes of cell division. If there is a mutation in the WRN gene, the structure of the chromosomes constantly changes. The frequency of spontaneous mutations increases 10 times, while the ability of cells to divide decreases by 3-5 times compared to healthy cells. Telomere length also decreases. And these processes are already really close to the aging that we mean when looking at elderly people on a bench.

There is no cure for progeria yet. Doctors are trying their best to slow down the rapid “aging” of such patients. Children with Hutchinson-Gilford syndrome are prescribed medications with antioxidant properties, vitamin E, etc. They undergo coronary artery bypass surgery in an attempt to cope with complications in the heart and blood vessels.

A medicine that can extend the life of a patient with childhood progeria by a year, and in best case scenario for 6-7 years, became lonafarnib, a drug created to treat cancer. For a person whose life can end at 13-17 years old, this is a significant period. In 2012, it was found that taking it leads to improved hearing, stronger bones, increased body weight and increased vascular flexibility. 6 years is not that much, but the creation of many effective medicines started with similar achievements.

Encouraging results were also obtained with rapamycin, pravastatin, and zoledronate.

Is progeria prevention necessary? Previously it was thought that no, since people with childhood progeria did not live long enough to be able to give birth to children, and adult patients developed infertility. True, in last years There are reports of women with progeria giving birth to healthy children. But this disease is so rare that the likelihood of mutations spreading is extremely low.

No cure has yet been found for adult progeria. In such patients, only those severe and numerous diseases that attack them are treated.

“Looking at this flabby face, sunken eyes and flabby skin, one would hardly think that this is a child. However, this is so.” Many people know the story of 5-year-old Bayezid Hossain, who lives in southern Bangladesh. The boy suffers from a rare genetic disease– progeria, in which the body and organism age eight times faster than usual. It all starts with muscle atrophy, degenerative processes in teeth, hair and nails, changes in the osteoarticular apparatus, and this process ends with atherosclerosis, stroke and malignant tumors. As we see, progeria has not at all encouraging symptoms, which develop into fatal dangerous diseases. Therefore, such patients always face a fatal outcome. But is it possible to alleviate their suffering and even prolong their life? Or perhaps scientists are already one step away from creating a cure for this disorder? We'll tell you in today's article.

Hutchinson's syndrome in a child, Wikimedia

Infantile progeria, or Hutchinson (Hutchinson)-Guilford syndrome

For the first time, a disease in which the body ages prematurely was identified and described in 1889 by J. Hutchinson and independently in 1897 by H. Guilford. The syndrome, which manifests itself in childhood.

Despite the fact that progeria is a rather rare disease (only one in 7 million newborns is diagnosed with it), over the entire history of observations of this disease, more than 150 cases have already been recorded in the world. At birth, children look absolutely healthy; the first signs of accelerated aging begin to appear in babies aged 10-24 months.

The cause of the disease is a mutation of the LMNA gene; it produces the protein prelamin A, which forms a unique protein network - the internal framework of the nuclear envelope. The result is that cells lose the ability to divide normally.

While studying patients, geneticists also discovered disturbances in DNA repair (restorative function), cloning of fibroblasts (the main cells of connective tissue) and the disappearance of subcutaneous tissue.

As a rule, progeria is a non-hereditary disease, and cases of its development are rare, but there are exceptions. In several families, such a mutation has been registered in sibling children - descendants of closely related parents. And this indicates the possibility of an autosomal recessive type of inheritance, which manifests itself in people in adulthood. By the way, this happens to one in 200,000 people.

Progeria in adults, or Werner's syndrome

Back in 1904, the German doctor Otto Werner noticed dramatic changes in appearance and condition in people 14-18 years old. He discovered the syndrome, which is associated with sudden weight loss, stunted growth, the appearance of gray hair and gradual baldness.

All these transformations of a teenager into an old man are associated with a defect in the WRN gene (ATP-dependent helicase gene). The role of the WRN protein it produces is to maintain genomic stability and maintain the structure and integrity of human DNA. Over time, the mutation disrupts gene expression, DNA loses the ability to be restored, which is the cause of premature aging.

Unlike young patients who do not lag behind, and in some cases even surpass their peers in mental development, in adults the opposite effect is observed, because progeria begins to have a detrimental effect on their intellectual abilities.

About 10% of patients by the age of forty are faced with such terrible diseases as sarcoma, breast cancer, astrocytoma, and melanoma. Oncology develops against the background of diabetes mellitus and dysfunction of the parathyroid glands. That's why average duration The lifespan of people with Werner syndrome is 30-40 years.

The world's first treatment for progeria. American scientists tested a unique drug

At the moment, progeria is considered an incurable disease. The lives of people with Hutchinson (Hutchinson)-Gilford syndrome are cut short at the age of 7-13 years, but there is isolated cases, when patients lived to be 20 or even 27 years old. And all this thanks to some kind of treatment.

However, specialists from the Progeria Research Foundation (PRF) and Boston Children's Hospital were not satisfied with such statistics. In 2012, they began the world's first clinical trials of a drug that could help rapidly aging children. And, as reported by EurekAlert! , they succeeded in this matter.

The study of patients with progeria lasted for 2.5 years. Scientists invited 28 children from 16 different countries to participate, 75% of whom were diagnosed with the disease. The children came to Boston every four months and underwent full medical examination.

Throughout the entire period, subjects were given twice a day special drug farnesyltransferase inhibitor (FTI), which was originally developed to treat cancer. The research team assessed weight changes, arterial stiffness (a parameter for the risk of heart attack and stroke), and bone stiffness and density (a parameter for the risk of osteoporosis).

As a result, each child felt significantly better. The children began to gain weight, there were improvements in bone structure, and most importantly, in the cardiovascular system.

According to doctors, the results of this study are very encouraging. In the future, it is planned to continue studying FTI drugs and their effect, which will give Additional information O cardiovascular diseases and the normal aging process.

“The results of this trial are encouraging for our family. We are excited and hopeful about Megan's future. We are grateful to the Progeria Research Foundation and all the doctors for their commitment to helping my daughter and all children with progeria,” said Sandy Nighbor, mother of 12-year-old Megan, who participated in the clinical trial.

Progeria in culture and life

Believe me, it's never too late, or in my case, never too early to be who you want to be. There is no time frame - start whenever you want. You can change or remain the same - there are no rules for this. We can make better or worse choices, I hope you make the best.

This monologue is taken from David Fincher's film The Curious Case of Benjamin Button, which is based on the story of the same name by Francis Scott Fitzgerald.

From birth the hero of this known history was an outcast because from infancy he had the appearance and health of an 80-year-old man: he had wrinkles all over his body and atrophied legs. However time is running, and Benjamin, on the contrary, does not age, but becomes younger. Many different vicissitudes happen to a man, and, of course, love happens in his life.

In real life, such miracles do not happen, and people with progeria never grow young. But, despite their illness, such people never cease to be happy. In particular, Leon Botha, a South African artist, musician and DJ, is known to the world not only for his creative activity, as well as the fact that with terrible disease was able to live until he was 26 years old.

Leon was diagnosed with progeria at the age of 4, but the disease did not ruin his life. This man loved to enjoy every minute, although he realized that his imminent death was inevitable. For example, in January 2007, a man organized his first personal art exhibition in Durbanville, the theme of which was hip-hop culture as a way of life. Let us note that the “young” man had several such shows.

Botha was also involved in DJing and turntablism (a type of DJing) and performed in famous clubs under the pseudonym DJ Solarize. In addition, he collaborated with the South African group Die Antwoord and starred in their video for the song Enter the Ninja.

But, unfortunately, progeria spares no one. Therefore, on June 5, 2011, Botha died of a pulmonary embolism - pathological condition when part of a blood clot (embolus) that breaks away from its primary site of formation (often a leg or arm) moves along blood vessels and clogs the lumen of the pulmonary artery.

Today scientists all over the world are studying this mysterious disease. They want to move it from the list of fatal to the list of intractable. It is worth noting that science has already achieved enormous results in this direction. However, many questions remain that need to be understood, namely: what are the similarities and differences between special cases of progeria and normal aging of the body, how are they related to each other? genetic reasons Werner and Hutchinson (Hutchinson)-Gilford syndrome and how to resist accelerated aging of the body. Perhaps, after some time, answers will be found, and specialists will be able to prevent the development of the disease, thereby prolonging the lives of people with progeria.

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Progeria is a premature aging syndrome manifested by characteristic changes in the skin and internal organs. This is a rare genetic abnormality detected 1 person in 4 million. There are no more than eighty observed cases of this disease in the world. The etiopathogenetic factors of progeria have not been fully studied.

There are two morphological forms of pathology:

• Childhood progeria – Hutchinson-Gilford syndrome,
• Adult progeria - Werner's syndrome.

The term “progeria” translated from ancient Greek means “early aging.” The unnatural depletion of all life support systems is due to a genetic failure. At the same time, the aging process accelerates tenfold.

For Hutchinson-Gilford syndrome Children with delayed physical development show signs of aging: baldness, wrinkles, a specific appearance. Their body changes greatly: the structure of the skin is disrupted, secondary sexual characteristics are absent, and internal organs lag behind in development. Then age-related ailments quickly develop: hearing loss, arthrosis-arthritis, atherosclerosis, stroke or heart attack, bone demineralization. An eight-year-old child with this disease looks and feels 80 years old. In mental development, sick children remain absolutely adequate. Their intellectual development doesn't suffer. They rarely live past 13 years of age. Boys suffer from progeria somewhat more often than girls.

example of the development of a child with childhood progeria (Hutchinson-Gilford syndrome) from 1 year to 12 years

Werner syndrome usually begins to manifest clinically in young people aged 16-20 years. Adult progeria – accelerated aging with damage to all systems and a high risk of cancer various localizations. The genomic instability that drives the normal aging process leads to a variety of pathological changes. Such patients die by the age of 30-40, having all the symptoms of extreme old age.

a patient with adult progeria (Werner syndrome) - before the onset of the disease at 15 years old and with a developed form at 48 years old

Progeria is an incurable disease that “takes away” childhood from sick children and “turns” them into real old people. Regular and adequate health care allows you to slow down the irreversible aging process and reduce the severity clinical symptoms. For this purpose they use medications, nutritional supplements, surgical and physiotherapeutic techniques.

Etiology

The main cause of progeria is a single genetic mutation, the mechanism of which is currently unknown. Some scientists believe that the real reason mutations lie in the heredity of the parents, others - in the impact of radiation on the embryo during X-rays of a pregnant woman.

In Werner syndrome, the process of reproduction of DNA molecules is disrupted, and in Hutchinson-Gilford syndrome, the biosynthesis of the protein that determines the shape of cell nuclei is disrupted. Genetic disorders make cells unstable, which leads to the launch of unexpected mechanisms of aging. A large number of protein accumulates in cells that stop dividing. In this case, the shell of the nucleus becomes unstable, and the cells of the body become unusable and die prematurely. The mutation results in the production of a truncated progerin protein, which is unstable and rapidly degrades within the cell. Unlike the whole protein, it does not integrate into the nuclear lamina, which is located under the nuclear membrane and is involved in chromatin organization. The nuclear substrate is destroyed, resulting in serious problems. Progerin accumulates in smooth muscle cells vascular wall. Degeneration of these cells is one of the leading manifestations of the disease.

Progeria in adults is inherited in an autosomal recessive manner. In children, the mutation is not inherited, but occurs directly in the patient’s body. This is not surprising, since carriers die before reproductive age.

Non-genetic factors influencing the development of the disease:

1. Lifestyle,
2. accompanying illnesses,
3. climate,
4. nutrition,
5. state of the environment,
6. excess sun exposure,
7. smoking,
8. hypovitaminosis,
9. psycho-emotional factors.

Symptoms

In children (Hutchinson-Gilford syndrome)

At birth, a sick child appears to be a normal baby. Clinical signs of progeria appear already in the first year of life. Some children develop correctly up to 2-3 years of age, and then begin to lag behind their peers in terms of height and weight. Children with progeria have a specific appearance, since the signs of the disease are characteristic and unique. All patients are strikingly similar to each other.

typical children with Hutchinson-Gilford syndrome from different families)

A 4-year-old boy with a less typical form of Hutchinson-Gilford syndrome

• Sick children have a disproportionate skull with a large brain part and a small facial part. Their nose resembles the beak of a bird: it is thin and pointed. Lower jaw poorly developed, small chin, thin lips, protruding ears, unnaturally large eyes. The teeth grow in two rows, they are deflated and begin to fall out early. It is this set of specific features that makes sick children look like old people.
• Skeletal abnormalities are the main symptom of the pathology. Sick children are characterized by short stature, underdeveloped collarbones and hips. The bones of patients are very fragile, they often break, and joint mobility is limited. Hip dislocations are common. The manifestation of the disease is dwarfism. Skeletal and nail defects are observed. The nails are yellow and convex, resembling “watch glasses.” Sick children begin to sit and walk late, their posture changes. Some are unable to walk without assistance.
• The skin and subcutaneous fat become thin. Early aging in patients manifests itself in different ways: skin covering becomes covered with wrinkles, its turgor decreases, the eyelids swell, the corners of the mouth droop. Dry and wrinkled skin is especially noticeable on the face and limbs. The hair on the head falls out, becomes sparse and vellus, and there are no eyelashes or eyebrows. Visible through the thin skin on the head venous network. Due to the lack of subcutaneous fat, the child looks like a skeleton covered with skin. Dry and wrinkled skin atrophies in places, large areas of hyperpigmentation, thickening and keratinization appear on it.
• Other symptoms: infantilism, shrill voice, muscle wasting, short arms, narrow and protruding chest.

In adults (Werner syndrome)

First Clinical signs Werner syndrome appears by the age of 14-18 years. Until puberty, patients develop normally. Then they begin to lag behind their peers in physical development, go bald, and turn gray. Their skin becomes thinner, wrinkles and becomes unhealthy pale. The arms and legs look very thin due to atrophy of subcutaneous fat and muscles.

37-year-old man with Werner syndrome

After 30 years, the following pathological processes develop in the body of patients:

1. cataracts in both eyes,
2. hoarseness of voice,
3. calluses on the feet,
4. ulcerative-necrotic processes in the skin,
5. dysfunction of the sweat and sebaceous glands,
6. heart dysfunction,
7. osteoporosis, metastatic soft tissue calcification, osteomyelitis,
8. erosive osteoarthritis,
9. “scleroderma mask” on the face,
10. short stature, dense and short body, thin and dry limbs,
11. decreased intelligence,
12. nail deformation,
13. the appearance of large pigment spots on the skin,
14. hump on the back
15. exophthalmos due to thyroid dysfunction,
16. moon-shaped face due to pituitary dysfunction,
17. testicular atrophy in men, disorder menstrual cycle in women, early menopause.

The skin epidermis is flattened, connective tissue fibers are sclerosed, subcutaneous tissue atrophies and is partially replaced connective tissue. Limitation of passive movements in the joints of the arms and legs is manifested by the inability to fully flex and extend the limb. This is due to cicatricial tightening of the tendons and pain.

By the age of 40, patients develop senile ailments: heart problems, diabetes mellitus, frequent fractures of arms and legs, joint pain, benign and malignant skin tumors, dysfunction of the parathyroid glands. Cancer, heart attack and stroke, internal hemorrhages are the main causes of death in progeria.

Symptoms of pathology only resemble the process of normal aging. Signs of aging in progeria are varying degrees expressions or appear in a different order. With natural aging, nail growth slows down, and with progeria, it stops completely. In older people, eyebrows become thinner after hair loss on the head, and in patients with progeria, the opposite is true.

Diagnostics

Hutchinson-Gilford syndrome

Werner's syndrome

Diagnosis of progeria does not require specific techniques and studies. External signs diseases are so eloquent that the diagnosis is made based only on symptoms and data visual inspection. Specialists study personal and family history.

Additional studies are indicated to identify concomitant diseases. Patients are prescribed general analysis blood, her biochemical research, radiography of the osteoarticular apparatus, histological examination of the skin, medical and genetic counseling.

Treatment

Currently, there is no panacea for progeria. All treatments that have ever been used have proven ineffective. Doctors with help modern methods trying to stop the disease and prevent it from getting worse. Patients are jointly treated by specialists in the field of endocrinology, therapy, and cardiology.

To alleviate the condition of patients, doctors prescribe:

• "Aspirin" for the prevention of acute cardiac and vascular insufficiency– heart attack and stroke.
• Statins for lowering blood cholesterol levels and preventing atherosclerosis - “Lipostat”, “Choletar”, “Liptonorm”.
• Anticoagulants to prevent or slow down the process of thrombosis - “Warfarex”, “Sincumarin”.
• Preparations containing growth hormone - “Getropin”, “Neotropin”, “Dinatrope”. They allow you to correct delays in physical development.
• Preparations that heal wounds and stimulate blood circulation during the formation of ulcers - “Mefanat”, “Bepanten”.
• Hypoglycemic drugs for diabetes mellitus– “Diabeton”, “Maninil”, “Gliformin”.

Physiotherapeutic procedures are carried out to influence stiff and stiff joints. Patients are prescribed electrophoresis, reflexology, exercise therapy, infrared rays, water treatments, mud therapy, UHF therapy, magnetic therapy. It is indicated for patients with progeria proper nutrition, enriched with vitamins and microelements, moderate exercise stress, long walks fresh air, complete rest.

Infants are fed through a tube with special milk formulas containing additives for weight gain. Baby teeth are removed to free up space permanent teeth, which quickly erupt in sick children. Specialists monitor the state of the cardiovascular system, which allows early detection of emerging ailments. Surgery also indicated for patients with syndrome early aging. With angioplasty or coronary artery bypass surgery restore the patency of blood vessels.

Progeria - incurable pathology, the development of which cannot be stopped. Experimental treatment of adults with stem cells and farnesyltransferase inhibitors allows the restoration of subcutaneous fat, total weight, reduce bone fragility. The prognosis of the disease is always unfavorable. Patients die from acute coronary insufficiency or oncopathology. Prevention of progeria is impossible due to the fact that the disease is genetic character. Lifelong therapy can only make it easier and prolong the life of patients. Continuing care, cardiac care and physical therapy are the main directions in the treatment of the disease.

Video: examples of people with premature aging syndrome

Video: TV show about people with progeria