Disease when children age quickly

Humanity has not yet learned to fight all illnesses. Progeria, or premature aging syndrome, should also be considered an incurable disease.

What is premature aging syndrome

People started talking about progeria for the first time relatively recently. This is not surprising, because the disease is extremely rare - 1 time in 4-8 million people. The disease occurs at the genetic level. The aging process accelerates approximately 8–10 times. There are no more than 350 examples of the development of progeria in the world.

The disease affects males more than females (1.2:1).

The disease is characterized by severe growth retardation (manifests from an early age), changes in the structure of the skin, absence of hair and secondary sexual characteristics, as well as cachexia (depletion of the body). Internal organs are often not fully developed, and the person looks much older than his actual age.

Progeria is a genetic disease that manifests itself as underdevelopment and premature aging of the body.

The mental state of an individual suffering from progeria corresponds to biological age.

Progeria cannot be cured and causes the development of atherosclerosis (chronic artery disease), which ultimately leads to heart attacks and strokes. The result of the pathology is death.

Forms of the disease

Progeria is characterized by premature withering of the body or its underdevelopment. The disease involves:

1. childhood form (Hutchinson-Gilford syndrome);
2. adult form (Werner's syndrome).

Progeria in children can be congenital, but most often the first signs of the disease appear in the second or third year of life.

Progeria in adults occurs differently. The disease can suddenly overtake an individual at the age of 14–18 years. The prognosis in this case is also unfavorable and leads to death.

Video: progeria, or young old people

Reasons for the development of progeria

The exact causes of progeria have not yet been discovered. There is an assumption that the etiology of the development of the disease is directly related to the disruption of metabolic processes in connective tissue. Fibroblasts begin to grow through cell division and the appearance of excess collagen with low glycosaminoglycan levels. Slow formation of fibroblasts is an indicator of the pathology of intercellular matter.

Causes of progeria in children

The cause of the development of progeria syndrome in children is changes in the LMNA gene. It is he who is responsible for encoding lamin A. We are talking about a human protein from which one of the layers of the cell nucleus is created.

Often progeria is expressed sporadically (randomly). Sometimes the disease is observed in siblings (descendants from the same parents), especially in blood-related marriages. This fact indicates a potential autosomal recessive form of inheritance (manifests exclusively in homozygotes who received one recessive gene from each parent).

When studying the skin of carriers of the disease, cells were recorded in which the ability to correct damage in DNA was impaired, as well as to reproduce genetically homogeneous fibroblasts and change the depleted dermis. As a result, subcutaneous tissue tends to disappear without a trace.

Progeria is not inherited

It has also been recorded that the Hutchinson-Gilford syndrome being studied is related to pathologies in carrier cells. The latter are simply unable to fully free themselves from DNA compounds caused by chemical agents. When cells with the described syndrome were detected, experts determined that they were not capable of full division.

There are also suggestions that childhood progeria is an autosomal dominant mutation that occurs de novo, or without signs of inheritance. It was considered one of the indirect signs of the development of the disease, the basis of which included measurements of telomeres (the ends of chromosomes) in the owners of the syndrome, their close relatives and donors. In this case, an autosomal recessive form of inheritance is also seen. There is a theory that the process provokes a violation of DNA repair (the ability of cells to correct chemical damage, as well as breaks in molecules).

Reasons for the formation of progeria in adults

Progeria in an adult organism is characterized by autosomal recessive inheritance with the mutation gene ATP-dependent helicase or WRN. There is a hypothesis that in the unifying chain there are failures between DNA repair and metabolic processes in the connective tissue.

Since this form of the disease is extremely rare, one can only guess what type of inheritance is inherent in it. It is similar to Cockayne syndrome (a rare neurodegenerative disorder characterized by growth failure, disorders in the development of the central nervous system, premature aging and other symptoms) and manifests itself as separate signs of early aging.

Symptoms of early aging of the body

The symptoms of progeria manifest themselves in a complex manner. The disease can be recognized at an early stage, since its symptoms are clearly expressed.

Symptoms of early aging disease in children

At birth, children who have the deadly progeria gene cannot be distinguished from healthy babies. However, by the age of 1 year, certain symptoms of the disease manifest themselves. These include:

1. underweight, stunted growth;
2. lack of hair on the body, including on the face;
3. lack of subcutaneous fat reserves;
4. insufficient tone in the skin, causing it to sag and become wrinkled;
5. bluish skin tone;
6. increased pigmentation;
7. strongly visible veins in the head area;
8. disproportionate development of the bone tissue of the skull, small lower jaw, bulging eyes, prominent ear shells, hooked nose. A child with progeria typically has a “bird-like” grimace. It is the described list of peculiar characteristics that makes children look like older people;
9. late teething, which lose their healthy appearance in a short time;
10. shrill and high-pitched voice;
11. a pear-shaped chest, small collarbones, tight knee joints, as well as elbow joints, which, due to insufficient mobility, force the patient to take the “rider” position;
12. protruding or convex yellow nails;
13. scleral-like formations or thickening on the skin of the buttocks, thighs and lower abdomen.

When a small patient suffering from progeria turns 5 years old, inexorable processes of atherosclerosis formation begin to occur in his body, in which the aorta, mesenteric, and coronary arteries are severely affected. Against the background of the described failures, heart murmurs and hypertrophy (a significant increase in the mass and volume of the organ) appear in the left ventricle. The cumulative impact of these serious disorders in the body is a key reason for the low life expectancy of carriers of the syndrome. The fundamental factor that provokes the rapid death of children with progeria is considered to be myocardial infarction or ischemic stroke.

Symptoms of early aging in adults

A progeria carrier begins to quickly lose weight, be stunted in growth, turn gray and soon go bald. The patient's skin becomes thin and loses its healthy tone. Blood vessels and subcutaneous fat are clearly visible under the surface of the epidermis. With this disease, the muscles atrophy almost completely, as a result of which the legs and arms look excessively exhausted.

Progeria in adults occurs unexpectedly and develops quickly

In patients who have crossed the age limit of 30 years, both eyes are destroyed by cataracts (clouding of the lens), the voice becomes noticeably weaker, the skin over the bone tissue loses its softness, and then becomes covered with ulcerative lesions. Carriers of progeria syndrome are usually similar in appearance. They are distinguished:

1. small height;
2. moon-shaped face type;
3. "bird" nose;
4. thin lips;
5. a very prominent chin;
6. a strong, well-built body and dry, thin limbs, which are disfigured by generously manifested pigmentation.

The disease is unceremonious and interferes with the functioning of all body systems:

1. the activity of the sweat and sebaceous glands is disrupted;
2. the normal function of the cardiovascular system is distorted;
3. calcification occurs;
4. Osteoporosis (decreased bone density) and erosive osteoarthritis (irreversible processes in the joints) appear.

Unlike the child form, the adult form also has a detrimental effect on mental abilities.

Approximately 10% of patients by the age of 40 come into contact with such serious illnesses as sarcoma (malignant tissue formation), breast cancer, as well as astrocytoma (brain tumor) and melanoma (skin cancer). Oncology progresses due to high blood sugar and malfunctions of the parathyroid glands. The key causes of death in adults with progeria are most often cancer or cardiovascular abnormalities.

Diagnostics

The external signs of the disease are so obvious and vivid that the syndrome is diagnosed based on the clinical picture.

The disease can be detected even before the baby is born. This became possible thanks to the discovery of the progeria gene. However, since the disease is not transmitted through generations (it is a sporadic or single mutation), the likelihood that two children with this rare disease will be born within the same family is extremely low. After the progeria gene was discovered, detection of the syndrome became much faster and more accurate.

Changes at the gene level are now identifiable. Special programs, or electronic diagnostic tests, have been created. At the moment, it is quite possible to prove and substantiate individual mutational formations in the gene, which subsequently lead to progeria.

Science is developing rapidly, and scientists are already working on the final scientific method for diagnosing progeria in children. The described development will contribute to even earlier and more accurate diagnosis. Today, in medical institutions, children with this diagnosis are examined exclusively externally, and then tests and a blood sample are taken for testing.

If symptoms of progeria are detected, you must urgently seek advice from an endocrinologist and undergo a comprehensive examination.

Treatment of progeria

To date, no effective treatment for progeria has been found. The therapy is characterized by a symptomatic line, with the prevention of consequences and complications resulting from the progress of atherosclerosis, diabetes mellitus and ulcerative formations. For an anabolic effect (accelerating the process of cell renewal), a somatotropic hormone is prescribed, which is designed to increase weight and body length in patients. The therapeutic course is carried out by several specialists at once, such as an endocrinologist, cardiologist, therapist, oncologist, and others, based on the symptoms prevailing at a particular moment.

In 2006, scientists from America recorded clear progress in the fight against progeria as an untreatable disease. The researchers added a farnesyltransferase inhibitor (a substance that suppresses or delays the course of physiological or physicochemical processes), which had previously been tested on cancer patients, to the culture of mutating fibroblasts. As a result of the procedure, the mutation cells acquired their usual shape. The carriers of the disease tolerated the created drug well, so there is hope that in the near future it will become possible to use the drug in practice. In this way, it will be possible to exclude progeria at an early age. The effectiveness of Lonafarnib (a farnesyltransferase inhibitor) lies in the increase in the amount of subcutaneous fat in total body weight, as well as bone mineralization. The result is to reduce the number of injuries to a minimum.

There is an opinion that similar remedies can help in curing the disease as in the fight against cancer. But these are only assumptions and hypotheses, not confirmed by facts.

Therapy for patients today comes down to:

1. providing ongoing continuity of care;
2. special diet;
3. cardiac care;
4. physical support.

For progeria, treatment is exclusively supportive in nature and is focused on correcting changes occurring in the patient’s tissues or organs. The methods used are not always effective. However, doctors are doing everything they can. Patients are under continuous supervision by medical professionals.

Only by monitoring the function of the cardiovascular system is it possible to timely diagnose the development of complications and prevent their progress. All treatment methods are focused around a single goal - to stop the disease and not give it a chance to worsen, as well as to alleviate the general condition of the carrier of the syndrome, as far as the potential of modern medicine allows.

Treatment may include the following:

1. use of Aspirin in a minimal dosage, which can reduce the risk of developing a heart attack or stroke;
2. the use of other medications that are prescribed to the patient privately based on the presenting symptoms and his well-being. For example, drugs from the statin group reduce the amount of cholesterol in the blood, and anticoagulants prevent the formation of blood clots. A hormone that can increase height and weight is often used;
3. the use of physical therapy or procedures designed to work out joints that are difficult to bend, thereby allowing the patient to maintain activity;
4. elimination of milk teeth. A peculiar feature of the disease contributes to the premature appearance of molars in children, while milk teeth must be removed on time.

Based on the fact that progeria is genetic or random in nature, there are no preventive measures as such.

Treatment prognosis

The prognosis for carriers of progeria syndrome is unfavorable. Average indicators say that patients most often survive only up to 13 years, subsequently dying from hemorrhages or heart attacks, malignant neoplasms or atherosclerotic complications.

Progeria is incurable. The therapy is only in development. There is no definitive evidence of a cure yet. However, medicine is developing rapidly, so there is a high probability that patients with progeria will have a chance for a normal and long life.

This 4-year-old boy from Bangladesh looks like an 80-year-old man due to a rare disease.

Looking at Bayezid Hossein (Bayezid Hossain) from Bangladesh, you will see a flabby face, sunken eyes and loose skin, he suffers from joint pain, difficulty urinating and weak decayed teeth.

People from the community where he lives try to stay away from him, and children are afraid to play with him, despite the fact that he has above average intelligence.

Childhood progeria (photo)

Bayezid suffers from progeria - a disease in which the body ages eight times faster than usual. This disorder was used as the basis for Francis Scott Fitzgerald's book and film The Curious Case of Benjamin Button, in which the hero is born old and grows younger every day.

People with progeria usually die of a heart attack or stroke at an average age of 13.

Bayezid also suffers from lax skin syndrome or chalazoderma, a rare connective tissue disorder in which the skin hangs in folds.

Tripti Khatun (Tripti Khatun), the boy's 18-year-old mother said she was surprised by how smart her son was, but was very upset by his unusual appearance.

Bayezid only learned to walk when he was 3 years old, but he had all his teeth by 3 months, she said.

Despite his abnormal physical development, he is well developed mentally, can carry on a conversation, is well aware and has good intuition for his age.

When Bayezid was born in 2012, his parents were shocked by his appearance.

“He looked like an alien and it was heartbreaking”, said his mother Tripiti.

The doctors had no idea what to do and said that they had never encountered anything like this.

News of the unusual child quickly spread in the village, and although everyone wanted to see the unusual boy, the family did not receive support from the locals.

People gossiped behind the couple's back, since the boy's parents are each other's cousins. Consanguineous marriages are not uncommon in rural Bangladesh, and the couple married at the age of 13.

As Bayezid grew older, his personality and body developed much faster than other children in the village.

“He is very stubborn, knows what he wants and becomes very impatient. But he loves to play, is smart and witty" Bayezid does not go to school, but enjoys playing ball, drawing and taking toys apart to put them back together.

The boy’s parents turned to doctors, shamans, and monks, but nothing changed, and the situation worsened every day.

Progeria disease

Progeria is premature aging disease, in which children begin to age quickly from an early age. This is a genetic disorder that is still not fully understood. Although it is known that the cause is an abnormal protein, scientists cannot explain the mechanism of this disorder.

Currently, the world knows about 74 known cases of progeria. It occurs in approximately 1 in 4 to 8 million newborns. Children with progeria appear healthy at birth, but around 10 to 24 months of age, signs of accelerated aging begin to appear.

Signs of progeria may include:

loss of adipose tissue

· stiffness in the joints

atherosclerosis (heart disease)

Almost all patients with progeria die from heart disease, and children with progeria often suffer from high blood pressure, stroke, angina and heart failure.

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