In daily life, careful observation of some abnormal behaviors of children, such as walking like a duckling, frequent fractures, frequent excitement, hyperactivity, lethargy, muscle spasm, etc., is likely to be related symptoms of rare diseases such as osteogenesis imperfecta, phenylketonuria and mucopolysaccharide storage disease.
1、? Osteobrittle disease
2、? Phenylacetonuria
3、? Mucopolysaccharide storage disease
Hao, a 6-year-old boy from Shang Jin, Henan Province, waddled like a duckling recently, People's Daily reported. At first, parents didn't care too much, thinking that the children jumped and ran too much. Later, they found that children always fall for no reason, and it is difficult to go up and down the stairs. They quickly took their children to Henan Children's Hospital for treatment. After examination, the doctor found that the child suffered from a rare disease-Duchenne muscular dystrophy.
After reading the above news, my friends and I seem to feel unfamiliar with rare diseases such as osteogenesis imperfecta, phenylketonuria and mucopolysaccharide storage disease. In fact, these rare diseases are not far away from us in daily life.
? Rare diseases refer to those diseases with extremely low incidence, also known as "orphan diseases". At present, according to the relevant regulations of the World Health Organization, rare diseases refer to diseases in which the number of patients accounts for 0.65‰~ 1‰ of the total population. According to the specific conditions of their respective countries, there are some differences in the international standards for the identification of rare diseases. For example, the well-known rare diseases in China include osteogenesis imperfecta, phenylketonuria, mucopolysaccharide storage disease and so on.
According to relevant statistics, there are about16.8 million patients with rare diseases in China, of whom 50%-75% are children. The average diagnosis time of these rare diseases is about 5 years, but only 5% people receive medication. There are some problems such as difficult diagnosis, few treatment methods and available drugs, which lead to the difficulties of children and their family treatment. Below, let's take a look at the specific situation of these rare diseases:
Osteogenesis imperfecta. Osteogenesis imperfecta is a rare hereditary bone disease with an incidence of about 3/100000. Its main characteristics are bone fragility, deafness and joint relaxation, mainly due to congenital hereditary pain caused by mesenchymal dysplasia and collagen formation disorder. Such children are more prone to fractures, and even a slight collision will cause more serious fractures. Osteogenesis hypoplasia may involve human bone connective tissue and lead to skin, eye and ear diseases.
Affected by the disease, the face of patients with osteogenesis imperfecta may have some deformation, that is, the upper part of the head is relatively large and the lower part is relatively sharp; Patients' limbs may often bend or even break. Because the patient's bones and connective tissue are stunted, his physical development will be very short, which is lower than the normal height of his peers.
Because osteogenesis imperfecta is a congenital disease, there is no special treatment at present, so early detection and treatment are needed to reduce the probability of fracture and relieve the pain of patients. At the same time, it is necessary to increase the nutritional supply of patients and eat more foods rich in protein, lecithin, calcium and other ingredients to enhance immunity.
? Phenylketonuria. Phenylketonuria (PKU) is an autosomal recessive genetic disease. The mutation of phenylalanine hydroxylase gene leads to the decrease of the activity of the enzyme and the accumulation of phenylalanine and its metabolites in the body. PKU is the most common cumulative disease in congenital amino acid metabolism disorder.
Patients with phenylketonuria show mental retardation and mental retardation, especially language development disorder. The patient's skin is often dry and fair, accompanied by eczema and skin scratches, and his hair is light brown. At the same time, the patient's nervous system will be abnormal, such as excitement, hyperactivity or lethargy, muscle spasm, tendon hyperreflexia and so on.
Phenylketonuria is an autosomal recessive genetic disease. There is no special treatment at present. Therefore, early diagnosis and improvement of related symptoms, prevention and reduction of complications are particularly important. At the same time, in the patient's diet, low-protein foods such as starch, vegetables and fruits are the main foods, and long-chain polyunsaturated fatty acids are supplemented in time, which has reached the need of balanced nutrition.
? Mucopolysaccharide storage disease Mucopolysaccharide storage disease is a disease caused by the mutation of hydrolase that degrades mucopolysaccharides in human cell lysosomes, resulting in the loss of its activity, and mucopolysaccharides can not be degraded and metabolized, and finally stored in the body. Mucopolysaccharide storage disease is also a genetic disease. Due to the defect of lysosomal hydrolase, the degradation of acidic mucopolysaccharide (glucomannan) is blocked, and mucopolysaccharide accumulates in the body, causing a series of specific clinical symptoms.
Mucopolysaccharide storage is characterized by short stature, limited joint movement, claw-like, myoclonic and other symptoms; At the same time, there are symptoms such as joint stiffness, elbow joint, shoulder joint and knee joint movement limitation.
Because mucopolysaccharide storage disease is an autosomal recessive genetic disease, there is no specific treatment at present, so it is particularly important to improve the related symptoms. In diet, patients should eat more foods rich in vitamins and high vitamin B, such as watermelon and cantaloupe, but not warm foods, such as dog meat, so as to achieve a reasonable diet, pay attention to dietary balance and avoid the intake of spicy and irritating foods.
According to relevant medical statistics, about 80% of rare diseases are caused by genetic factors, and half of patients with rare diseases may get sick at birth or in childhood. Generally speaking, if rare diseases are not found and treated in time, the disease will develop rapidly and even endanger life.
In fact, most rare diseases have genetic genes. If the child inherits the disease-causing mutant gene of his father and mother, it may lead to rare diseases. If a child carries only one pathogenic mutation, there is a high probability that he will not get sick and has no symptoms, and at the same time carries two or more pathogenic mutation genes, then the probability of getting sick will be high.
As the saying goes, the solution is always more difficult than it is. In my opinion, although rare diseases are diseases with extremely low incidence, they are actually very close to us. In real life, we should pay attention to children's physical changes in time. If we find that children have abnormal behaviors such as walking, staggering like ducklings, frequent fractures, frequent excitement, hyperactivity or lethargy, muscle spasms, etc., it is likely that they have related rare diseases. When the child's abnormal behavior is found, he should seek medical treatment as soon as possible, delay the development of rare diseases to the maximum extent, avoid damage, and restore the child's normal daily life function as soon as possible.