Experts say rare diseases are not uncommon, what factors can lead to rare diseases ?

Experts say "rare diseases" are not uncommon, what factors can lead to "rare diseases"?

Rare diseases refer to some diseases that are very rare in the population, these diseases are often difficult to diagnose, some experts say that rare diseases are not rare, mainly because the group of rare disease patients is actually very large, the reason why it is called rare disease, is because many people with rare diseases have no way to be found all, so from the numerical point of view, the number of people with rare diseases is very small, in fact, the number of rare disease people is not only diagnosed with these, plus there are many types of rare diseases, Therefore, the total number of people suffering from rare diseases has exceeded 300 million people worldwide, and in China alone, there are more than 20 million rare disease patients.

Rare diseases are distributed in various parts of the body, we are usually more familiar with ALS and lupus erythematosus, etc., often appear in our sight of these diseases, there are about thousands of types of rare diseases, most of the patients with rare diseases are caused by genetic factors and genetic problems.

Most of the rare diseases are controlled by lifelong medication, basically rare diseases are difficult to be treated, so many rare disease patients may need to take a variety of drugs throughout their lives, and the drugs of rare diseases are often relatively high, so this also brings great economic pressure to rare disease patients, but in our country has begun to pay attention to the coverage of related drugs in the field of rare diseases, and increase the support for rare disease patients in the policy. Reduce the ** of drugs, and reduce the economic pressure of rare disease patients to the greatest extent. So this also gives hope to many rare disease patients.

There are many factors that cause rare diseases, such as genetic factors, inherited parents' genes or environmental factors, which can be caused, and rare diseases are relatively rare diseases.

Irregular eating and sleeping may be hereditary in daily life. It may also be a regular drinker and a regular smoker. Some flora factors appeared.

Most of them are hereditary disorders.

About 80% of rare diseases are caused by genetic defects, known as hereditary rare diseases. Many people think that rare diseases are someone else's family affair and have nothing to do with them, because they have not had those familial genetic diseases for generations. But in fact, rare diseases are not far from us, and perhaps among our relatives and friends, the diseases they suffer from are hereditary rare diseases.

Ways to prevent rare diseases

1. First of all, the genetic counseling of family members is carried out, the corresponding detection technology is used to determine the gene mutation**, the inheritance mode and family carrier are clarified, and then the risk assessment of the recurrence of fetal genetic diseases is carried out, so as to select the appropriate pregnancy method and prenatal diagnosis method.

2. For high-risk groups, such as one of the husband and wife who is a patient, or a child who has given birth to a genetic disease, or a carrier of a certain genetic disease, the high-risk group needs to do genetic testing of chorionic villus or amniotic fluid during pregnancy.

3. Through early diagnosis and intervention after birth, timely and effective targeted measures should be taken to reduce damage and avoid aggravation of the disease, so that patients with chronic plexus can maintain a healthy state.

Regarding rare diseases, the following statements are correct:1Rare diseases refer to diseases that occur rarely, such as those in Nunga Europe, which is defined as a disease that affects less than 5 out of every 1,000 people.

2.There is a general lack of public awareness and understanding of rare diseases because of their low incidence and lack of understanding of them by most doctors and the general public.

3.Differentiating between rare diseases can be difficult because symptoms can be very broad, similar to those found in other common diseases, leading to misdiagnosis and delays**.

4.For patients with rare diseases, it is often necessary to carry out multidisciplinary cooperation and management, including genetic counseling and psychological support for the disease.

5.Due to the rarity of the disease, there is a lack of assistance for research and medical support, so the best methods and medicines are also limited.

February 28 of every year is the "International Day of Rare Diseases", which is mainly set up to promote the awareness of the society and various departments about rare diseases and the related issues of patients suffering from rare diseases, hoping to promote everyone's understanding of rare diseases through this festival. In fact, the number of rare diseases in China is quite large, and the number of patients with various rare diseases in China has exceeded 20 million. <>

1. Rare diseases are not rare

In fact, according to statistics, the number of rare diseases that have been discovered has exceeded 7,000 kinds, accounting for about 10% of the total number of human diseases, and 80% of these rare diseases are caused by genetic defects, these rare diseases are hereditary, 50% of rare disease patients are children, and 30% of children may not survive to 5 years old. <>

2. How many rare diseases are there in China?

At present, the number of rare diseases in China has exceeded 20 million, and 80% of rare diseases are related to genetic factors, and not all genetic factors are dominant. Rare diseases are also known as orphan diseases, and the drugs for this disease are also known as orphan drugs, because this drug is relatively rare, coupled with the relatively high cost of research and development, the risk in the process of research and development, and the market demand is relatively small, so in the world, less than 10% of rare diseases can be approved to develop drugs, and most of the rare diseases are very high at the time, and it is difficult for ordinary families to pay, so it is very unfortunate for families to encounter this rare disease. <>

At present, the state is also actively promoting the drug research and development and marketing of this rare disease, and opening a green channel for the drug research and development of these rare diseases, as well as registration and approval, so that these rare drugs can be marketed as soon as possible. At present, the state still attaches more importance to the medication of patients with rare diseases, and also tries to expand the scope of medical insurance. At present, 67% of this rare drug in China is included in the medical insurance, which is also to reduce the burden on patients.

It has already reached 20 million. Such a number is also quite large, and many families have no way to get a good **.

It has reached 20 million, and now 67% of the drugs have entered the medical insurance, which can reduce a lot of burden.

There are about 20 million rare diseases in China, and 67% of them are now covered by medical insurance.

The number has reached 20 million. It can be seen that rare diseases appear particularly frequently in life.

Disease analysis: Rare diseases usually refer to diseases with a relatively low incidence rate, also known as orphan diseases.

The cause of rare diseases is not a clear difference in special groups, most of them are congenital diseases, and there is no specific drug**, and it is relatively difficult**. However, after the illness, it is also necessary to go to the hospital in time, and then cooperate with the doctor to take targeted measures to control the development of the disease, so as not to lead to further aggravation of the disease and affect the quality of life.

It is necessary to add some nutritious foods to the diet, and in addition, to do a good job of daily care.

At present, there are 6,000 to 7,000 known rare diseases in the world, hundreds in China, and dozens of more common diseases.

Porcelain doll is a rare hereditary bone disease "porcelain doll", that is, osteogenesis imperfecta, is a rare congenital bone development disorder, also known as brittle bone disease or brittle bone-blue sclera-deafness syndrome. The main manifestations of patients are increased bone fragility and disturbances in collagen metabolism.

AlbinismAlbinismAlbinismThe whole body** is milky white or pink, and the hair is pale or yellowalAlbinism is a hereditary disease, because the patient usually has a white body**, hair, eyebrows and other body hair, or white with yellow, people figuratively call it "moon child". Due to the lack of protection from melanin, patients** are highly sensitive to light, their eyes are afraid of light, and they love to squint when looking at things.

Phenylketonuria PKU is the most common type of amino acid metabolism disease, and patients can gradually show symptoms such as reduced IQ, irritability, vomiting, excessive activity or restlessness in infancy, and the body can smell a special odor.

Hemophilia, a group of bleeding disorders with hereditary coagulation dysfunction, hemophilia is a bleeding disorder caused by a deficiency of coagulation factors, which was once known as the "European royal disease": among the children and grandchildren of Queen Victoria of the United Kingdom, there are at least 11 hemophilia patients, and these people are members of the royal family of European countries such as Britain, Spain, and Germany.

Mucopolysaccharidosis is a disease caused by the mutation of the hydrolase enzyme that degrades mucopolysaccharides in the lysosomes of human cells, resulting in the loss of its activity, and the mucopolysaccharides cannot be degraded and metabolized, and finally accumulated in the body.

Gigantism, also known as acromegaly, is caused by excessive growth hormone (GH) secretion by the pituitary gland. gigantism in adolescents due to patent epiphysis; After puberty, the epiphysis has fused to form acromegaly; A small number of adolescences begin and continue to develop gigantism into adulthood. In the early stage of the disease (formative stage), the physique and internal organs are generally hypertrophied, and the anterior pituitary gland is hyperfunctional; In the late stage (declining phase), physical strength declines, and secondary anterior pituitary hypofunction occurs.

Porcelain doll - osteogenesis imperfecta.

Moon Child – Albinism.

Sticky baby - mucopolysaccharidosis.

Children who don't eat the fireworks of the world - phenylketonuria.

Glass Man – Hemophilia.

Gaucher disease bow – tuberous sclerosis.

Pocket Man – Growth Hormone Deficiency.

Butterfly baby – epidermolysis bullosa.

Lymphangiomyomatomatosis.

Penguin family – hereditary ataxia.

Rettgirl – Rett syndrome.

Niemann-Pick disease.

Progressive muscular dystrophy.

Bendamustine.

Bendamustine is a bifunctional alkylating agent with antitumor and cytocidal effects. In the early 60s of the 19th century, it was developed by Ozegowski and his colleagues at the Association for Microbiological Testing in Jena, Germany. The main mechanism of the anti-tumor and cell-killing effect of this product is that the single and double strands of DNA are cross-linked through alkylation, which disrupts the function of DNA and the synthesis of DNA, and also causes cross-links between DNA and proteins, as well as between proteins and proteins, so as to exert anti-tumor effects.

This product alone or in combination with other anti-tumor drugs is used for the treatment of malignant tumors such as Hodgkin's disease, non-Hodgkin's lymphoma, plasmacytoma (multiple myeloma), chronic lymphocytic leukemia, breast cancer and so on.

ALS (amyotrophic lateral sclerosis), inflammatory bowel disease.

There are many kinds of rare diseases, some of which are caused by genetic mutations, some by environmental factors, and some by infection, malnutrition, etc.

In short, rare diseases are complex and difficult, and they need the attention and support of the medical community and all walks of life to jointly provide better care and care for patients with rare diseases.

Gene mutations are one of the main causes of rare diseases, and more than 75% of rare diseases are caused by genetic mutations. Congenital muscular dystrophy, cystic fibrosis, Huntington's disease, etc., are all rare diseases caused by genetic mutations.

Rare diseases are diseases with a prevalence of less than 1 in 2,000 people, and these diseases are often difficult for those who have fewer patients and whose research counterparts are less clear.

Approaches to rare diseases vary from one to the other. For rare diseases caused by gene mutations, genes and other methods are mainly used at present. For rare diseases caused by environmental factors, corresponding measures need to be taken, such as avoiding exposure to harmful substances.

For rare diseases caused by infection, malnutrition, etc., corresponding measures such as drugs** and nutritional support are required.

There are many kinds of rare diseases, some are caused by genetic mutations, some are caused by environmental factors, and some are caused by infection, malnutrition and other reasons.

The prevention of rare diseases should first be prevented from the genetic link, because the marriage of close relatives will make the abnormal and defective parts of the human body be repeatedly covered and combined, which leads to the occurrence of rare diseases.

Rare diseases

What exactly is the disease?

Rare diseases refer to diseases that are relatively rare in daily life, and generally do not belong to common clinical medical diseases. However, this rare disease also has a certain probability of occurrence and incidence. For example, phenylketonuria and hemophilia A are rare diseases.

However, although the incidence in clinical medicine is low, there are still some people who develop the disease. Once the patient suffers from this disease, it will not be too difficult to diagnose, but due to the lack of corresponding cases, ** will cause certain difficulties for doctors. Due to the relatively small number of examples and cases of nursing research, there is not much experience with the diagnosis and experience of rare diseases at the moment, and the details of some cases must be analyzed in depth.

Only about 1% of rare diseases in the world have specific methods, and the number of rare disease drugs registered in China is almost zero. Due to the huge investment in the whole process of product development, the highly effective **drug** for rare diseases is expensive, and most patients cannot afford to pay at home. Encourage a practical payment system to enable patients with rare diseases to have access to sustainable basic medical insurance.

What should be done for rare diseases?

Due to the low incidence of rare diseases, they have relatively limited access to scientific resources. Some pharmaceutical factories lack the interest in developing, manufacturing or introducing drugs and foods for rare diseases for the sake of economic development and profits. In addition, there are not many examples of many diseases, so it is not easy to study this disease scientifically.

Even if a symptomatic drug is developed, it is shocking due to the relatively small market for patient sales, which is beyond the patient's affordability.

This rare disease is not contagious, so we don't have to avoid it. In many countries and regions, and even some developing countries, according to the mandatory requirements of drug production, basic medical insurance, social security, self-interest, etc., to ensure that patients receive medical assistance and live a normal life.