Crystal disease is a rare genetic pathology in which there are disorders in the structure and development of the musculoskeletal system, which leads to high fragility of the bones. In medicine, this disease is called imperfect osteogenesis. What is this disease? What are the signs and symptoms of the disease, what treatment methods exist? Let's try to answer all these questions.
What is osteogenesis imperfecta?
Crystal bone disease is a hereditary disease. With this pathology, bone tissues become very fragile, which is why a sick person often experiences fractures that occur with the slightest impact and even in the absence of any injuries. In patients with such a diagnosis, other pathological manifestations are often noted in the form of:
- muscle tissue atrophy;
- dental abnormalities ;
- joint hypermobility;
- hearing loss in progressive form;
- bone tissue deformities.
In various sources, the disease imperfect osteogenesis has several names:
- intrauterine rickets;
- congenital osteomalacia;
- Lobstein's disease;
- periosteal dystrophy;
- brittle bones, or crystal disease.
The reasons for the appearance of such a pathology lie in genetic changes that lead to a violation of the formation of bone tissue. A person develops generalized osteoporosis, and the bones become fragile.
The disease is quite rare. According to statistics, it occurs in 1 child out of 10-20 thousand children born. The disease is considered incurable, although in modern medicine there are many ways to improve the patient's condition and make life easier for children with such a genetic pathology.
Why does the disease occur?
Doctors note two main causes of the onset of the disease:
- Gene mutations occur in the bones, resulting in a lack of collagen protein, which is the connective tissue. In 5% of patients, the type of inheritance of the disease is autosomal dominant and autosomal recessive.
- The cause of the pathology is spontaneous mutation. The amount of collagen in this case is normal, but during protein synthesis, changes in its structure occur. Bones can grow normally, but at the same time violations of tissue ossification occur, mechanical properties decrease, their fragility occurs.
The disease "crystal bone" is a genetic pathology, so in most cases it occurs in children whose relatives have the same disease. But there are rare cases when a child is found to have osteogenesis imperfecta, while the parents are absolutely healthy. The appearance of such a pathology is associated with the occurrence of spontaneous mutation.
There are several types of diseases that are characterized by various symptoms and the development of bone structure. We will consider in detail each stage of the disease.
Weak form
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 upon reaching 10 years of age, the risk of injury to bone tissue decreases. People after 40 years should be careful, as the risk of brittle bones increases 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
In most cases, the second type of imperfect osteogenesis leads to the death of the child in the womb. The disease can cause premature birth in the early stages of gestation.
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 bosom of the mother, which can be determined during the passage of a pregnant ultrasound. A child who was born with such a pathology has a growth of no more than 20-30 cm. Brain activity and respiratory system are impaired. With this diagnosis, children are born dead or live only a few days. Cases were recorded when a “crystal” child died a month after birth. The cause of death are numerous fractures.
- The second group (B). Signs of pathology are similar to manifestations of category (A), but the respiratory system is working normally or has slight deviations. In patients, all the tubular bones are shortened, this is how crystal disease manifests itself. Life expectancy is several years after birth.
- The third group (B) - is found in rare cases. The fetus either dies in the womb, or the newborn dies within a few days after birth. The skull is not developed and has no ossification, the tubular bones are thinned.
Bone growth is impaired
The third type has a characteristic feature - bone growth is impaired. This type of pathology is very rare. Despite the fact that the newborn is small in stature, his weight may correspond to the norm. Patients with imperfect osteogenesis of this type are often diagnosed with problems with the circulatory system. It is this problem that causes death. In newborns with impaired bone growth, fractures often occur during childbirth.
Skeleton growth disrupted
With the fourth type of disease, serious violations in the growth and structure of the skeleton are noted. For several years, the patient has corns formed on the bones, while the risk of fractures is reduced. By the age of 30, the patient may experience hearing loss.
To identify the type and group of the disease, it is necessary to undergo a whole range of diagnostic measures. They carry out all the procedures at once, as soon as the baby was born.
Diagnostic Methods
Crystal disease (photos are presented in the article) can be diagnosed in the fetus in the womb. You can find out about the existing pathology when undergoing ultrasound. If there is a suspicion of impaired collagen synthesis, more research will be needed. For this, a pregnant woman is taken for analysis of amniotic fluid and epithelial tissue.
As soon as the baby was born, it is necessary to conduct a comprehensive examination, which includes:
- bone biopsy;
- X-ray to detect fractures;
- densitometry (study of the mineral composition of the bone cavity);
- blood test to detect changes in DNA;
- collagen diagnostics;
- epidermal biopsy.
The results obtained enable doctors to choose an effective therapy regimen.
How is crystal 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 skeletal system.
The course of treatment should include:
- magnesium and potassium salts;
- calcium;
- Vitamin D and other beneficial substances.
It is recommended to use physiotherapy exercises and physiotherapy.
Parents of a child with such pathologies should undergo a course of psychotherapy, which explains how to properly educate the child and adapt him in a social society. This will allow the baby to learn how to avoid dangerous situations in which there is a high risk of a fracture.
The development of such a pathology cannot 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 have no deviations in mental and psychological development, so they may well be realized in life, you only need to help them.