The free clinic platform for patients with rare diseases is coming. What are the characteristics of rare diseases?

Rare diseases refer to those diseases with extremely low incidence. Rare diseases are also called? Orphans? There is no clear definition in China. According to the definition of the World Health Organization (WHO), rare diseases account for 0.65% of the total population. - 1? Illness. 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 United States defines rare diseases as diseases in which the number of patients is less than 200,000 per year (or the proportion of patients is less than11.500); According to Japanese regulations, rare diseases refer to diseases with fewer than 50,000 patients (or the proportion of patients is 1/2500), while in Taiwan Province Province of China, the incidence of rare diseases is less than one in ten thousand.

What are the rare diseases 1 and albinism? It is the mutation of different genes that leads to the defect of melanin or melanosome biosynthesis, which is manifested as a genetic disease with pigment deficiency in skin, eyes and hair. The skin and hair of albino patients are albino, which is easy to get sunburned, and most of them have symptoms such as nystagmus, fear of light and low vision. There is no effective treatment at present.

2, acromegaly. It is an abnormal proliferative disease of skin and bone caused by excessive secretion of growth hormone caused by pituitary hyperplasia or tumor. The onset of minors causes gigantism, and the onset of adults is characterized by diffuse hypertrophy and thickening of skin, thickening of facial texture, deepening of wrinkles, widening of nasolabial groove and thickening of tongue and lips. At the same time, the compression of pituitary adenoma leads to organ lesions, the incidence of malignant tumor will increase accordingly, and the life span will be shortened. The incidence rate is 6 ~ 18 people/10,000.

3. Idiopathic pulmonary hypertension. It is a rare cardiovascular disease with an annual incidence of 1 ~ 2 people/million, with a higher incidence in women. 60% patients showed dyspnea, asthma, chest pain and so on. In severe cases, pericardial effusion occurs, leading to right heart failure and bedridden. The average age of the patient is about 30 years old, and he is currently a serious chronic disease that cannot be cured.

4, phenylketonuria. Without pyruvate hydroxylase, phenylalanine can only be converted into phenylpyruvic acid by transamination, and patients excrete a lot of phenylpyruvic acid in urine. The accumulation of phenylpyruvic acid is toxic to nerves and hinders intellectual development. The incidence of neonatal diseases is about one in 50,000, and about 6-7 newborns with this disease are born every year.

5. Mitochondrial diseases. It is caused by defects in mitochondrial DNA or nuclear DNA. Gene defects lead to changes in functional proteins or structural proteins in mitochondrial respiratory chain, which lose their original functions and hinder energy synthesis, resulting in a series of symptoms, such as epilepsy, migraine, dementia, hemianopia, limb pain and obvious fatigue after exercise, decreased vision, ptosis, nervous deafness, short stature, diabetes, cardiomyopathy, cataract and so on.

6, hemophilia. Hemophilia is a group of hemorrhagic diseases with hereditary coagulation dysfunction, which is characterized by the disorder of active thromboplastin production, prolonged coagulation time, and a tendency of bleeding after mild trauma for life, and even severe cases can occur without obvious trauma? Spontaneity? It's bleeding.