The phenomenon of abnormal aging is the unsolved progeria (3 photos). Childhood progeria: do children have a chance?

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 triggers the process of 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 disease are remarkably similar appearance, despite 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 outcomes are myocardial infarction, stroke and malignant tumors. Scientists cannot determine the exact cause of the disease.

Who is at risk?

Although progeria is genetic disease, in the classical sense of Hutchinson-Gilford syndrome, but 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 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 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. The final one is currently being developed scientific way diagnostics of children. 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 ongoing 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 new development Damage to blood vessels is not only reduced, but also partially restored over the period.

Humanity has not yet learned to fight all illnesses. To the number incurable diseases Progeria, or premature aging syndrome, should also be included.

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.

Illness in to a greater extent 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 is the cause of the development of atherosclerosis ( chronic disease arteries), 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:

• childhood form (Hutchinson-Gilford syndrome);
• 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. The 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. She was ranked among indirect signs 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 deficiency, disorders in the development of the central nervous system , premature aging and other symptoms) and manifests itself individual signs

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:

• underweight, stunted growth;
• lack of hair on the body, including on the face;
• lack of subcutaneous fat reserves;
• insufficient tone in the skin, causing it to sag and become wrinkled;
• bluish skin tone;
• increased pigmentation;
• strongly visible veins in the head area;
• disproportionate development of the bone tissues 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;
• delayed teething, which a short time lose their healthy appearance;
• shrill and high-pitched voice;
• pear-shaped chest, small collarbones, tight knee joints, as well as the elbows, which, due to insufficient mobility, force the patient to take the “rider” position;
• protruding or convex yellow nails;
• scleral-like formations or compactions on the skin of the buttocks, thighs and lower abdomen.

Symptoms of progeria in a child most often appear at 1 year of age.

When a small patient suffering from progeria turns 5 years old, inexorable processes of the formation of atherosclerosis begin to occur in his body, in which the aorta, mesenteric, and also coronary arteries. 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 an emergency fatal outcome children with progeria are considered to have 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. Under the surface of the epidermis are clearly visible blood vessels, as well as subcutaneous fat. 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:

• small height;
• moon-shaped face type;
• "bird" nose;
• thin lips;
• a very prominent chin;
• 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:

• the activity of the sweat and sebaceous glands is disrupted;
• distorted normal function of cardio-vascular system;
• calcification occurs;
• 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, like sarcoma ( malignancy in tissues), breast cancer, as well as astrocytoma (brain tumor) and melanoma (skin cancer). Oncology progresses based on 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. Once the progeria gene was discovered, detection of the syndrome became much faster and more accurate.

Changes at the gene level are now identifiable. Created special programs, or electronic diagnostic tests. 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, as well as accurate diagnosis. Today at 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

Up to this day effective method no cure for progeria has been found. The therapy is characterized by a symptomatic line, with the prevention of consequences and complications based on the progress of atherosclerosis, diabetes mellitus and ulcerative formations. For an anabolic effect (accelerating the process of cell renewal) it is prescribed growth hormone, which is designed to increase weight as well as 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 introduced a farnesyltransferase inhibitor (a substance that suppresses or delays the course of physiological or physicochemical processes), which had previously been tested on cancer patients, into 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. Thus, it will be possible to exclude progeria even in 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:

• providing ongoing continuity of care;
• special diet;
• cardiac care;
• 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 general state carrier of the syndrome, as far as the potential of modern medicine allows.

Treatment may include the following:

• use of Aspirin in minimum dosage which can reduce the risk of heart attack or stroke;
• the use of other medications that are prescribed to the patient privately based on the present 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;
• the use of physical therapy or procedures designed to work out joints that are difficult to bend, thereby allowing the patient to maintain activity;
• 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, then preventive measures there are none 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.

People first started talking about premature aging syndrome 100 years ago. And it’s not surprising: such cases occur once in 4-8 million babies. Progeria (from the Greek pro - earlier, gerontos - old man) - or Hudchinson Guilford syndrome. This disease is also called childhood old age. This is an extremely rare genetic disease that accelerates the aging process by approximately 8-10 times. Simply put, a child ages 10-15 years in one year.

Children with progeria appear normal for 6 to 12 months after birth. After this, they develop symptoms characteristic of old age: wrinkled skin, baldness, brittle bones and atherosclerosis. Eight-year-old child looks 80 years old - with dry skin wrinkled skin, bald head. These children usually die at the age of 13-14 after several heart attacks and strokes against the background of progressive atherosclerosis, cataracts, glaucoma, total loss teeth, etc. And only a few live to 20 years or longer. People call this disease “canine old age.”

There are now about 60 known cases of progeria in people around the world. Of these, 14 people live in the United States, 5 in Russia, and the rest in Europe. Features of such patients include dwarf stature, low weight (usually not exceeding 15-20 kg), excessively thin skin, poor joint mobility, underdeveloped chin, small face in comparison with the size of the head, which gives a person bird-like features. Due to the loss of subcutaneous fat, all blood vessels are visible. The voice is usually high. Mental development appropriate for age. And all these sick children are strikingly similar to each other.

Until recently, doctors were unable to determine the cause of the disease. And only recently, American researchers discovered that the cause of “childhood old age” is a single mutation. Progeria is caused by a mutated form of the LMNA gene. According to the director of the National Genome Research Institute, 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 each patient. A genetic mutation in the Lamin A protein causes accelerated aging of the body. And the young man - with his large protruding ears, bulging eyes and swollen veins on his bald skull - turns into a one hundred and sixteen year old man.

Hussein Khan and his family are unique in their own way: this is the only case known to science when more than one family member suffers from progeria. And thanks to this family, scientists were able to make a real breakthrough in understanding the nature of the disease. Hana's husband and wife are cousins. Neither of them has progeria, nor do their two children, 14-year-old Sangeeta and two-year-old Gulavsa. Their 19-year-old daughter Rehena and two sons: 7-year-old Ali Hussein and 17-year-old Ikramul suffer from this disease. None of them have practically any chance of living even to 25, and this is probably the saddest thing.

Adult progeria (Werner syndrome) is a hereditary or family disease. It manifests itself as premature aging, starting at the age of 20-30, accompanied by early graying, baldness and arteriosclerosis. Adult progeria manifests itself in the following symptoms. Slowly developing juvenile cataract. The skin of the feet, legs, to a lesser extent, hands and forearms, as well as the face, gradually becomes thinner, the subcutaneous tissue and muscles in these areas atrophy. On lower limbs 90% of patients experience trophic ulcers, hyperkeratosis and nail dystrophy.

Atrophy of the facial skin ends with the formation of a beak-shaped nose (“bird nose”), narrowing of the mouth and a sharpening of the chin, reminiscent of a “scleroderma mask.” Endocrine disorders include hypogenitalism, late appearance or absence of secondary sexual characteristics, dysfunction of the upper and lower parathyroid glands(violation calcium metabolism), thyroid gland(exophthalmos) and pituitary gland (moon-shaped face, high-pitched voice). Osteoporosis is often observed. Changes in the fingers resemble those seen in sclerodactyly. Most patients with Werner syndrome die before age 40. Trials are currently underway to treat the disease with stem cells.

Progeria is a serious disease that has no cure. This genetic disease develops in children of any gender, turning them into old people in a short period of time. Progeria is dangerous not only for children, but also for adults. After all, the disease can begin to progress at different ages.

General information about the disease

This pathology is dangerous because it triggers premature aging in the body. The disease goes by two different names. If it is found in children, they are diagnosed with Hutchinson-Gilford syndrome. If the disease manifests itself in an adult, he is diagnosed with Werner syndrome.

Statistics show that progeria is more common in boys than in girls. The average life expectancy of a child diagnosed with this condition ranges from 10 to 13 years. There have been very rare cases where patients with this pathology lived to be 20 years old. Unfortunately, the disease cannot be treated and is fatal.

The symptoms of progeria are very scary. Sick children are very far behind their peers in physical development. In addition, the patient’s body wears out very much: the structure of the skin is disrupted, there are no signs of secondary sexual development, and the internal organs remain underdeveloped. In addition to the symptoms described above, there is another one - external aging of the body. That is, little children look like old people, which greatly affects their emotional state.

The mental development of patients with progeria is absolutely normal. The body retains childlike proportions, but despite this, the epiphyseal cartilage quickly overgrows, and in its place an epiphyseal line is formed, as in adults. Children, whose bodies grow up very quickly, face various serious adult diseases: diabetes mellitus, cardiovascular diseases, atherosclerosis, stroke and others.

Reasons for the development of pathology

Unfortunately, scientists have not yet thoroughly studied this pathology. They were only able to find out that the basis of the pathology is most likely a mutation of the lamin gene. It is this gene that is responsible for the processes of cell division. A failure in the genetic system deprives cells of resistance and triggers premature aging processes in the body.

Many genetic diseases are inherited. However, progeria is not transmitted. Therefore, even if one of the parents suffered from this pathology, it will not be passed on to the child.

Symptoms of progeria

As soon as the baby is born, symptoms of the disease cannot be immediately detected. He will be no different from healthy newborn babies. However, already in the first year of life, the symptoms of progeria make themselves felt. Symptoms of the disease are:

• very short stature and severe lack of body weight;
• lack of subcutaneous fat and lack of tone in the skin;
• lack of eyebrows and eyelashes;
• hyperpigmentation and bluish tint of the skin;
• disproportionate development of the skull and facial bones, bulging eyes, small lower jaw, protruding ears, hooked nose;
• late appearance of teeth that deteriorate very quickly;
• high and shrill voice;
• rib cage has a pear-shaped shape, small collarbones, elbow and knee joints are “tight”;
• convex nails yellow color;
• sclera-like formations on the skin of the buttocks, lower abdomen and thighs.

At the age of five, children who suffer from progeria begin to develop atherosclerosis, which affects the aorta, coronary arteries and mesenteric arteries. Against the background of these disorders, other pathologies appear: left ventricular hypertrophy, the appearance of heart murmurs. The complex influence of all these symptoms leads to the sudden death of a sick person. Most often, patients die from ischemic stroke and myocardial infarction.

Progeria in an adult

It has already been said above that not only a child, but also an adult can suffer from of this disease. Progeria can strike at the age of 14-18 years. The patient begins to lose weight sharply, his growth slows down, and White hair and progressive alopecia is observed. Skin a person's skin becomes sharply thinner and the skin acquires an unhealthy pale tint. Under the skin you can see blood vessels, muscles and subcutaneous fat. The arms and legs look very thin, and the muscles begin to atrophy.

Cataracts appear in patients over 30 years of age eyeballs, the voice weakens, the skin over the protrusions of the bones becomes rough and covered with ulcers. Patients with progeria look the same: thin, dry limbs, a dense body, short stature, a nose in the shape of a bird's beak, a narrow mouth, a protruding chin, and numerous pigment spots on the skin.

The disease disrupts the activity of the entire body. Work is disrupted internal organs, sebaceous glands, sweat glands, the cardiovascular system is disrupted, the body suffers from a lack of vitamins and minerals, osteoporosis and erosive osteoarthritis develop. The disease has a detrimental effect on intellectual abilities.

About 10% of patients face serious diseases such as breast cancer, melanoma, sarcoma, and astrocytoma. Oncology begins to develop against the background of diabetes mellitus and impaired function of the parathyroid glands. Most often, adult patients die from cardiovascular pathologies of oncology.

Diagnosis of the disease

The symptoms of progeria are very pronounced and specific. Therefore, the doctor does not need to conduct any additional tests to make the correct diagnosis.

Treatment of progeria

Unfortunately, scientists have not yet found a cure for this disease. All treatment methods that are practiced today are very often not effective enough. Since the disease cannot be treated, doctors simply regularly monitor the condition of the sick person. A person who suffers from progeria must constantly undergo medical examinations, have an ultrasound of internal organs, and monitor the condition of the cardiovascular system.

All treatment methods are aimed at reducing the rate of progression of the disease. Doctors also try to alleviate the patient’s condition as much as possible.

Today, patients with progeria are prescribed the following treatment:

• Minimum doses of Aspirin are prescribed, which can reduce the risk of a heart attack.
• Various medications are prescribed that improve well-being and eliminate symptoms of various diseases. For example, doctors prescribe medications from the group of statins, which lower blood cholesterol levels. Anticoagulants are prescribed to block the formation of blood clots. Very often, growth hormone is prescribed, which helps to accumulate weight and height.
• Patients with progeria are prescribed various physiotherapeutic procedures that develop joints. This allows the patient to remain physically active.

Small children diagnosed with progeria have their baby teeth removed, since the disease causes permanent teeth to erupt very quickly, and baby teeth to deteriorate very quickly. And if they are not removed in a timely manner, there may be problems with the eruption of molars.

Since the disease is genetic, there are no preventive measures against its development.