What is progeria

progeria — aging Dictionary of Russian synonyms. progeria noun, number of synonyms: 1 • aging (15) ASIS Dictionary of Synonyms. V.N. Trishin ... Dictionary of synonyms

PROGERIA — PROGERIA, nanisme senile, presenile involution, senilism. A rare disease, first described by Gilford, consists of premature decrepitness of the body associated with its underdevelopment. The main signs of a sharp retardation in growth with ... Big Medical Encyclopedia

progeria — A human disease accompanied by rapid acceleration of the body [http://www.dunwoodypress.com/148/PDF/Biotech Eng Rus.pdf] Biotechnology topics EN progeria ... Technical Translator's Guide

Progeria — I 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... ... Medical encyclopedia

PROGERIA - honey Progeria is a pathological condition characterized by premature aging of the body (appearance of loose skin, alopecia, bird face, etc.). • Progeria of adults (Wernerasyndrome) (*277700, 8p12, defect of the WRN gene, p) manifests itself... ... Reference book on diseases

progeria - (progeria; Greek progeros prematurely aged, from pro + geras senile age) a pathological condition characterized by premature aging of the body ... Large medical dictionary

Progeria - (Greek progeros - prematurely aged). See Werner syndrome, Hutchinson–Gilford syndrome ... Explanatory dictionary of psychiatric terms

Progeria - (Greek progeros - premature aging) - see Werner syndrome, Hutchinson-Guilford syndrome. * * * Premature aging caused by dysfunction of the hypothalamic-pituitary system ... Encyclopedic Dictionary of Psychology and Pedagogy

PROGERIA - A serious disorder characterized by short stature; (in particular, dwarfism) and early impairment of mental abilities, which is similar to what happens in old age ... Explanatory dictionary of psychology

PROGERIA - (progeria) a very rare condition in which a young child begins to develop all the signs of rapid aging, so that old age is achieved even before the onset of puberty... Explanatory dictionary of medicine

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:

1. Childhood progeria - Hutchinson-Gilford syndrome,
2. 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 does not 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. Progeria in adults is accelerated aging with damage to all systems and a high risk of developing cancer of 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 medical care can slow down the irreversible aging process and reduce the severity of clinical symptoms. For this purpose, medications, nutritional supplements, surgical and physiotherapeutic techniques are used.

Etiology

The main cause of progeria is a single genetic mutation, the mechanism of which is currently unknown. Some scientists believe that the true cause of the mutation lies 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 amount 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 the smooth muscle cells of the 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

1. 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. The lower jaw is poorly developed, the chin is small, the lips are thin, the ears are protruding, and the eyes are unnaturally large. 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.
2. 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.
3. The skin and subcutaneous fat become thin. Early aging in patients manifests itself in different ways: the skin becomes covered with wrinkles, its turgor decreases, the eyelids swell, and 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. A venous network is visible through the thinned skin on the head. 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.
4. Other symptoms: infantilism, shrill voice, muscle wasting, short arms, narrow and protruding chest.

In adults (Werner syndrome)

The first clinical signs of Werner syndrome appear 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, menstrual irregularities in women, early menopause.

The skin epidermis is flattened, connective tissue fibers are sclerosed, subcutaneous tissue atrophies and is partially replaced by 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 vary in severity 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

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

Additional studies are indicated to identify concomitant diseases. Patients are prescribed a general blood test, biochemical examination, x-ray of the osteoarticular apparatus, histological examination of the skin, and medical genetic counseling.

Treatment

Currently, there is no panacea for progeria. All treatments that have ever been used have proven ineffective. Doctors, using modern methods, are 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:

1. "Aspirin" for the prevention of acute cardiac and vascular failure - heart attack and stroke.
2. Statins for lowering blood cholesterol levels and preventing atherosclerosis - “Lipostat”, “Choletar”, “Liptonorm”.
3. Anticoagulants to prevent or slow down the process of thrombosis - “Warfarex”, “Sincumarin”.
4. Preparations containing growth hormone - “Getropin”, “Neotropin”, “Dinatrope”. They allow you to correct delays in physical development.
5. Preparations that heal wounds and stimulate blood circulation during the formation of ulcers - “Mefanat”, “Bepanten”.
6. 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 procedures, mud therapy, UHF therapy, and magnetic therapy. Patients with progeria are advised to eat proper nutrition, enriched with vitamins and microelements, moderate physical activity, long walks in the fresh air, and proper rest.

Infants are fed through a tube with special milk formulas containing additives for weight gain. Milk teeth are removed to make room for permanent teeth, which erupt quickly in sick children. Specialists monitor the state of the cardiovascular system, which allows early detection of emerging ailments. Surgical treatment is also indicated for patients with early aging syndrome. With the help of angioplasty or coronary artery bypass grafting, the patency of blood vessels is restored.

Progeria is an incurable pathology whose development cannot be stopped. Experimental treatment of adults using stem cells and farnesyltransferase inhibitors makes it possible to restore subcutaneous fat, overall weight, and reduce bone fragility. The prognosis of the disease is always unfavorable. Patients die from acute coronary insufficiency or cancer. Prevention of progeria is impossible due to the fact that the disease is genetic. 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

1. Amyotrophy
2. Infertility
3. Big eyes
4. Venous expansion
5. High voice
6. muffled voice
7. Dental defects
8. Deformation of hands
9. Stunted growth in a child
10. Keeled chest
11. Retarded physical development
12. Lack of hair on the head
13. Lack of subcutaneous tissue
14. Skin pigmentation
15. Flat feet
16. Graying of hair
17. Senile wrinkles at a young age
18. Dry skin
19. Enlarged skull
20. Ulcers on the legs

Progeria (Hutchinson-Gilford syndrome) is a rare pathology caused by a mutation in the gene responsible for protein synthesis. With this pathology, changes appear in the skin and internal organs, which are caused by premature aging.

Childhood progeria, the symptoms of which appear from the age of 2 years, causes premature aging: patients live on average up to 13 years and die from atherosclerosis and related diseases - stroke, myocardial infarction. Despite the genetic nature of the disease, it is not inherited.

The adult form - Werner's syndrome - is a genetic pathology, inherited, begins after 18 years, is characterized by early aging, the development of diseases of old age: atherosclerosis, osteoporosis, cataracts. Leads to death.

Causes

Hutchinson-Gilford syndrome is a consequence of a mutation, a change in gene structure that occurs spontaneously or under the influence of external factors. The carrier of human heredity is the DNA molecule. A gene consists of amino acids connected to each other in a strict sequence. Changes in the composition of the polypeptide chain lead to genetic diseases.

With progeria, structural changes occur in the gene responsible for the synthesis of the lamin protein. The amino acid cytisine is replaced by thymine. Pathological lamin is called progerin, the accumulation of which leads to premature cell death. Molecular changes lead to processes similar to natural aging.

Adult progeria is also a consequence of a gene mutation. The synthesis of the enzyme responsible for DNA functioning is disrupted. The resulting damage to the genetic apparatus causes premature aging of somatic cells.

Symptoms

Children's progeria symptoms have the following:

1. small stature;
2. lack of subcutaneous tissue;
3. dilated vein under the skin;
4. disproportionately large skull;
5. lack of hair on the head;
6. poor physical development;
7. big eyes;
8. dental defects;
9. “keeled chest”;
10. high voice.

Despite the lag in physical development, children with Hutchinson-Gilford syndrome are intellectually developed and do not lag behind their peers in mental development. Childhood progeria is accompanied by the progression of atherosclerosis from the age of 5 and an increase in cardiac pathology - noises appear on auscultation, symptoms of myocardial hypertrophy. Cardiac diseases are the most common cause of death.

Cases of progeria in adults, that is, Werner syndrome, are characterized by the following conditions:

1. early gray hair and baldness;
2. the appearance of senile wrinkles at a young age;
3. pigmentation, dry skin;
4. fibrous compactions in the subcutaneous tissue;
5. the voice becomes dull.

Progeria is the cause of infertility in men and women. In the later stages of the disease, trophic ulcers appear on the legs. Due to muscle atrophy, the limbs become thinner, joint contractures and flat feet develop. The “rider pose” is characteristic due to the half-bent arms. The hands become deformed, the nails turn yellow and take on the appearance of “watch glasses.”

X-rays show osteoporosis and lime deposits in the periarticular tissues and ligaments of the joints. Progeria in adults is often accompanied by benign tumors of various locations, endocrine diseases, and diabetes mellitus. In 8-12% malignant tumors occur. Therefore, progeria symptoms are often vague.

Treatment

Hutchinson-Gilford syndrome is a fatal disease that always ends in death. There is no etiotropic treatment that eliminates the cause of the pathology. Atherosclerosis leads to death, in which cholesterol is deposited on the inner wall of blood vessels, narrowing the lumen of the arteries, and blood flow is disrupted. Ischemic disease and myocardial infarction develop. Atherosclerotic plaques cause the formation of a blood clot, which can break away from the vessel wall and cause cerebrovascular accidents and stroke.

Treatment of progeria is aimed at reducing the manifestations of atherosclerosis and involves a diet low in animal fats, rich in protein foods: lean meat, fish, cottage cheese. Drug therapy involves the use of statins - drugs that lower blood cholesterol levels:

1. Atorvastatin Pfizer;
2. "Lipofen";
3. "Rosuvastatin Sandoz";
4. "Simvastatin";
5. "Epadol-neo."

Drugs in this group reduce the concentration of cholesterol and affect the content of lipids in the blood.

With progeria, constant monitoring of the state of the cardiovascular system is necessary. To prevent and treat heart diseases, medications are used that reduce blood clotting and have antiplatelet properties:

Growth hormone and physiotherapeutic procedures are used to restore joint function. Baby teeth are removed because progeria in children leads to impaired growth.

Drugs have appeared that prolong the life of patients with progeria, and with them the hope that with the development of genetic research, it will be possible to cure a disease that was considered fatal.

Intensive study of genetic pathology in Russia and around the world began in the 21st century. Researchers have found that progerin accumulates in small quantities in a healthy body, and its content in cells increases with age. Hutchinson-Gilford syndrome and natural aging have common causes. With the development of medical science, it will become possible not only to cure serious illnesses, but also to fight old age.