Disease of the crystal: causes, photos, life expectancy

Crystal disease refers to rare genetic pathologies, in which there are disruptions in the structure and development of the musculoskeletal system, which leads to a high brittle bone. In medicine, this disease is called imperfect osteogenesis. What is this disease? What are the signs and symptoms of the disease, what methods of treatment exist? Let's try to answer all these questions.

What is imperfect osteogenesis?

Crystal bone disease is a hereditary disease. With this pathology, bone tissue becomes very fragile, which is why a patient often has fractures that occur at the slightest impact and even in the absence of any injuries. Patients with this diagnosis often mark other pathological manifestations in the form:

• atrophy of muscle tissue;
• dental abnormalities;
• hypermobility of the joints;
• hearing loss in progressive form;
• deformation of bone tissue.

In various sources, the disease of imperfect osteogenesis has several names:

• intrauterine rickets;
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• osteomalacia congenital;
• Lobstein's disease;
• periosteal dystrophy;
• fragility of bones, or crystal disease.

The causes of the appearance of such pathology lie in the genetic changes that lead to the violation of the formation of bone tissue. In humans, generalized osteoporosis occurs, and the bones become brittle.

The disease is quite rare. According to statistical data, it occurs in 1 child from 10-20 thousand children born. The disease is considered incurable, although in modern medicine there are many ways to improve the condition of the patient and make life easier for children with such a genetic pathology.

Why is the disease

Doctors note two main causes of the disease:

1. Bone gene mutations occur, which causes a lack of collagen protein, which is a connective tissue. In 5% of patients, the type of inheritance is autosomal dominant and autosomal recessive.
2. Spontaneous mutations are the cause of the pathology. The amount of collagen in this case is normal, but the synthesis of protein changes in its structure. Bones can grow normally, but at the same time, tissue ossification occurs, mechanical properties decrease, and their fragility arises.

The disease "crystal bone" is a genetic pathology, therefore in most cases it occurs in children whose relatives have the same disease. But there are rare cases when the child is found to have imperfect osteogenesis, while the parents are absolutely healthy. The appearance of such a pathology is associated with the emergence of a spontaneous mutation.

There are several types of diseases that are characterized by different symptoms and development of the structure of bone tissue. We will examine in detail each stage of the disease.

Weak form of

About 50% of all patients with imperfect osteogenesis have the first type of this pathology. Crystal disease in children( photo in the article) is accompanied by frequent fractures, but after reaching 10 years of age the risk of injury to bone tissues is reduced. People after 40 years should be more careful, since the threat of brittle bone grows again.

With a mild form of the disease, bleeding from the nasal cavity is often observed, this is due to some changes occurring in the aorta.

Perinatal-lethal form of

In most cases, the second type of imperfect osteogenesis leads to the death of the child in the womb. The disease can cause premature births in the early gestation period.

This form of the disease is divided into three groups, each of which has certain characteristics:

• The first group( A).The bones of the skull are damaged even in the womb of the mother, which can be determined during the passage of a pregnant ultrasound. A child born with such a pathology has an increase of no more than 20-30 cm. Brain activity and respiratory system are violated. With this diagnosis, children are born dead or live only a few days. There were recorded cases when a "crystal" child died a month after birth. The cause of death is numerous fractures.
• The second group( B).Signs of pathology are similar to manifestations of category( A), but the breathing system works normally or has minor deviations. In patients, all tubular bones are shortened, this is how the crystal disease manifests itself. Life expectancy is several years after birth.
• The third group( B) - occurs in rare cases. The fetus either perishes in the womb, or the newborn dies within a few days after delivery. The skull is not developed and has no ossification, the tubular bones are thinned.

The growth of bones is broken

The third type has a characteristic feature - the growth of bones is broken. This kind of pathology is very rare. While the newborn is of small height, its weight can correspond to the norm. In patients with imperfect osteogenesis of this type, problems with the circulatory system are often diagnosed. It is this problem that causes death. In newborns with broken bones, fractures often occur during labor.

Skeletal growth disrupted

In the fourth type of disease, serious abnormalities in the growth and structure of the skeleton are noted. Within a few years, the patient develops calluses on the bones, with the risk of fractures decreasing. By the age of 30, the patient may have a hearing loss.

To identify the type and group of the disease, it is necessary to undergo a whole complex of diagnostic measures. Conduct all procedures at once, as soon as the baby was born.

Diagnostic methods

Crystal disease( pictured in the article) can be diagnosed in the fetus even in the womb. You can learn about the existing pathology when you undergo ultrasound. If there are suspicions of a disorder in the synthesis of collagen, additional studies will be needed. To do this, the pregnant woman is taken for analysis amniotic fluid and epithelial tissue.

Once a baby was born, it is necessary to conduct a comprehensive examination, which includes:

• bone biopsy;
• X-ray for identifying fractures;
• densitometry( study of the mineral composition of the cavity of bones);
• blood test to detect changes in DNA;
• collagen diagnostics;
• biopsy of the epidermis.

The results allow doctors to choose an effective therapy regimen.

How is the "bone bone" disease treated?

Imperfect osteogenesis is considered an incurable disease, but with the help of effective therapy it is possible to alleviate the patient's condition and strengthen his bone system.

The course of treatment should include:

• magnesium and potassium salts;
• calcium;
• vitamin D and other useful substances.

It is recommended to apply physical therapy and physiotherapy.

Parents of a child with similar pathologies should undergo a course of psychotherapy, where they explain how to properly teach a child and adapt it in a social society. This will allow the child in the future to learn to avoid dangerous situations, in which there is a high risk of a fracture.

The development of such a pathology can not be prevented. But today there are progressive methods of treatment, adhering to which you can improve the health of the baby. Children who have a crystalline disease, do not have deviations in mental and psychological development, so they can be realized in life, it is only to help them.