Jane Yingxiu, an attending physician in the Department of Genetics and Pediatrics at National Taiwan University Hospital, pointed out that, in simple terms, rare diseases refer to diseases with very low prevalence and are rarely seen. Most rare diseases are mainly due to genetic defects, leading to congenital diseases. Some are genetic defects caused by gene mutation, and some are genetic diseases caused by defective genes. In addition, a few rare diseases have not been studied and the exact pathogenic factors have been found.
Due to the low prevalence of rare diseases, the general public has less opportunities to contact patients, so there is a general lack of understanding of rare diseases to some extent. Basically, although the probability of rare diseases is very low, there are about 25,000 genes in the human body. If both husband and wife happen to have a recessive gene for a rare disease, or the gene mutates occasionally, the child may suffer from a rare disease because of genetic abnormality. In addition to pre-marital or pre-pregnancy health examination, both husband and wife can also carry out prenatal genetic diagnosis, and after the baby is born, the blood of the baby can be drawn for neonatal screening. However, not every rare disease will be screened out in time, and the method of screening rare diseases is not completely applicable to every family. If a pregnant mother or baby is to be screened, the cost may be a burden on the family and should not be underestimated.
Dr. Jane Yingxiu has repeatedly stressed that parents who have given birth to babies with rare diseases need not blame themselves. This is not caused by ghosts and gods such as karma and karma. And it's not because the parents did something wrong that the baby has some birth defects. Everyone has many mutated genes, but they just don't show them. When a baby with a rare disease is born, parents should clean up their negative emotions and seek various social resources to solve the problem in time. At present, China has established institutionalized welfare services for rare diseases, including the promotion of the Law on Rare Diseases and the medical subsidy program for rare diseases, that is, * * * * subsidizes the drugs and special nutrients needed by patients with rare diseases for survival. At the same time, logistics centers for special nutritious foods and emergency medicines for rare diseases have been established one after another, and genetic consultation centers have been set up in north, middle, south and east. Expected.
Can rare diseases be cured? If we can find some rare diseases early, take or give specific drugs in time, or reduce the harm caused by rare diseases through diet control, such as mental retardation, developmental retardation and other consequences. However, there are still some rare diseases that have not yet developed drugs that can alleviate or control the disease, and they can only rely on rehabilitation to alleviate the symptoms.
Genetic reasons, six rare diseases in children, 1 phenylketonuria, are common.
Phenylacetonuria is caused by the defect of aniline acid metabolic pathway in essential amino acids, which leads to a large amount of amphetamine acid accumulation in the body and cannot be excreted through metabolism, resulting in many toxic metabolites, which in turn causes brain damage to the baby. The main symptoms are skin and hair fading, growth retardation, mental retardation, body odor and abnormal limb movements.
The damage of phenylketonuria to the brain is gradual. Most newborn babies have no symptoms and will appear slowly after about 3 ~ 4 months. There may be vomiting, skin and hair fading, eczema, growth retardation, mental retardation, peculiar smell in urine and body sweat, convulsions and trembling.
Taking Special Milk Powder & Diet Control
It is best to start treatment within 2 weeks after the baby is born, so as to avoid irreparable damage to intelligence. Babies with phenylketonuria need to control the value of amphetamine acid for a long time, such as drinking special milk powder with low amphetamine acid, avoiding eating foods containing amphetamine acid, such as fish, meat, eggs, milk, beans, etc., to avoid excessive accumulation of amphetamine acid in the body and prevent the deterioration of baby's intelligence and behavioral ability. At present, newborn babies in Taiwan Province Province will be screened for early treatment.
2 mucopolysaccharide storage disease (mucopolysaccharide baby) Due to the lack of a specific enzyme, cells in the body cannot decompose mucopolysaccharide normally and smoothly, which leads to the accumulation of mucopolysaccharide inside and outside cells, thus damaging the structure and function of organs. The main symptoms are hypoplasia, nose bridge collapse, thick lips, enlarged skull, corneal opacity, abdominal hernia, impaired respiratory function and bone development.
Because the accumulation of mucopolysaccharide is a cumulative process, there is generally no obvious abnormality when a mucopolysaccharide baby is born. With the growth of age, excessive accumulation of mucopolysaccharide in the body will affect the development of intelligence, appearance or bones, such as impaired respiratory function, uncoordinated limb movements, developmental retardation, nose bridge collapse, enlarged head, thick lips, corneal opacity, abdominal hernia and other symptoms.
Nursing principles of enzyme replacement therapy
Mucopolysaccharide accumulation may cause the baby's bones to deform, make the respiratory tract unobstructed, and cause dyspnea. Symptoms are usually based on treatment, including prevention and treatment of infection. For example, mucopolysaccharide babies should eat less whole milk, high sugar and greasy food. If the baby's lips, gums and tongue are thick, it will affect the arrangement and development of teeth. Parents should help their babies brush their teeth and clean them with dental floss and mouthwash to prevent bad breath and tooth decay.
Dr. Jane Yingxiu pointed out that at present, the main rescue direction of mucopolysaccharide babies is to alleviate their illness and pain. We can consider the existing enzyme replacement therapy and provide special enzymes to effectively delay the deterioration of the disease. Another treatment is bone marrow or stem cell transplantation. After successful transplantation, mucopolysaccharide babies can produce their own enzymes to decompose mucopolysaccharide. But the timing, matching, cost and risk of transplantation are undoubtedly a big test for the baby or family.
Cerebellar atrophy (spinocerebellar ataxia) Cerebellar atrophy is a general term for a large group of diseases with similar symptoms. Symptoms of spinal cord and cerebellum dysfunction may also be caused by spinal cord or peripheral neuropathy, not necessarily cerebellar atrophy, also known as spinocerebellar ataxia. The main symptoms are slurred speech, dysphagia, coordination of limb movements and dyskinesia of hands.
Asymptotic symptoms of ataxia caused by cerebellar atrophy or cerebellar dysfunction, such as poor coordination of limb movements, unclear speech, dysphagia, and poor hand movements (writing). ) and gait instability, which may cause other complications such as diplopia, Parkinson's disease, epilepsy and muscle atrophy due to pathological changes in other parts of the nervous system.
Principles of nursing language, physics and functional rehabilitation therapy
There are six rare diseases in children, namely osteogenesis imperfecta (glass doll). Congenital osteogenesis imperfecta is also called brittle bone disease, which is also commonly known as glass doll. The main cause of osteogenesis imperfecta is the defect in the manufacture of collagen fibers that constitute human connective tissue, which leads to the decrease of bone strength and tolerance, fragile bones and frequent fractures. The main symptoms are muscle weakness, abrasion, fracture, scoliosis, short stature, blue sclera, bad dentin and ossicular sclerosis.
There is no difference in intelligence between the baby with osteogenesis imperfecta and the general baby, but due to the lack of collagen fiber, it is more prone to fracture, muscle weakness, scoliosis, short stature, abrasion, cyanosis, dentin dysplasia, ossification of ossicles and other symptoms.
Nursing principles: reduce fractures and use bone-strengthening drugs.
Osteogenesis imperfecta is the same as cerebellar atrophy. At present, there is no complete cure for congenital osteogenesis imperfecta, and supportive therapy is the main method in clinic. Infants with osteogenesis imperfecta can use drugs to strengthen their bones, help them choose appropriate assistive devices, and reduce the probability of fracture. Others include follow-up evaluation of hearing, preventive dental care and evaluation, and treatment of nerve compression that may be affected by spinal curvature to control its condition.
5 Hepatolenticular degeneration Hepatolenticular degeneration is due to the genetic abnormality of copper metabolism, which leads to the failure of copper metabolism in infants to be secreted by bile, so that excessive copper accumulates in the liver and gradually spreads to different organs of the body, which is toxic and destructive to human tissues. The main symptoms are abnormal copper rings in the liver, brain (central nervous system) and cornea.
When children with Wilson's disease develop symptoms, they may first show problems in the liver, brain (central nervous system) and eyes. Excessive copper accumulation may lead to abnormal copper rings during corneal examination. The symptoms of liver problems will be similar to hepatitis or cirrhosis, and there may be symptoms such as increased liver index, jaundice, decreased albumin, ascites and abnormal coagulation function. As for the symptoms of the nervous system, there may be manic symptoms such as trembling, involuntary movement, unsteady gait, abnormal limb tension, slurred speech, drooling, dysphagia, or emotional instability and insanity.
The principle of care reduces the copper content in the body.
The sooner Wilson's disease is treated, the better, which can avoid excessive accumulation of copper and poisoning the body. The treatment of Wilson's disease is mainly aimed at reducing the copper content in the body, accelerating the excretion of copper by taking drugs for life, or taking drugs to prevent the small intestine from absorbing copper, thus reducing the accumulation of copper in the body. In addition, the diet is mainly low in copper, and foods with high copper content, such as viscera, whole grains, shrimps and crabs, beans and their products, drupes, mushrooms, dried fruits, foods containing chocolate and cocoa, etc., are avoided.
6 Hereditary epidermolysis bulla Hereditary epidermolysis bulla is a group of rare hereditary diseases, also known as congenital epidermolysis bulla, which is mainly caused by gene mutation of components that maintain adhesion between epidermis and dermis, and there is no risk of infection.
The skin structure of newborns is very fragile after birth. As long as you gently rub your baby's skin, you may wear it out, and even there is a danger of blisters or blood blisters. The main symptoms are blisters on the skin mucosa, malnutrition, limb atrophy, blisters or blood blisters on the skin. More serious patients may even be found in oral cavity, tongue, esophagus, stomach and other mucous membranes, causing difficulty in breathing or eating, and then malnutrition, skin deformation or limb atrophy. In addition to the above symptoms of skin defect and limb atrophy, the baby is no different from the normal baby in other aspects, but most of its symptoms will accompany the baby for life.
Nursing principles of preventing wound infection
At present, there is no fundamental treatment for hereditary epidermolytic blisters. The principle of nursing is to change the baby's dressing every day and wrap it with foam to maintain the integrity of the baby's skin, avoid new blisters and prevent wound infection. Baby bubble dragons also need the care of many doctors in different disciplines. In addition to dermatologists, otolaryngologists deal with airway and esophageal obstruction, rehabilitation doctors assist in rehabilitation to avoid limb atrophy and deformation, plastic surgeons are responsible for limb reconstruction, nutritionists give nutritional feeding advice, and psychologists provide psychological counseling in time.
Jane Yingxiu
Education: Ph.D., Institute of Clinical Medicine, Medical College, Taiwan Province Provincial University, and Department of Medicine, Medical College, Chang Gung University.
Experience: Clinical Assistant Professor, School of Medicine, Taiwan Province Provincial University, Pediatric Resident, National Taiwan University Hospital.
Current position: Attending physician of Genetics and Pediatrics in National Taiwan University Hospital, and clinical associate professor of Medical College of Taiwan Province Provincial University.