What are the manifestations of rare diseases and what are the rare diseases?

Rare diseases refer to rare diseases with low prevalence. There are as many rare diseases as 1000 published by American rare disease organizations. The well-known rare diseases in China include Fabry's disease, Gaucher's disease, mucopolysaccharide storage disease, phenylketonuria, thalassemia, osteogenesis imperfecta (commonly known as glass doll), hyperammonemia, organic acidemia, Wilson's disease and so on.

The definition criteria of rare diseases will change in different times and regions. AIDS was once designated as a rare disease. Another example is thalassemia, which was once listed as a rare disease in northern Europe. Now these two diseases are common.

Albinism is a genetic disease characterized by insufficient biosynthesis of melanin or melanosome caused by different gene mutations, which is characterized by the lack of pigments such as 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.

Acromegaly is an abnormal proliferative disease of skin and bone caused by excessive secretion of growth hormone by pituitary gland due to 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.

Idiopathic pulmonary hypertension is a rare cardiovascular disease, with an annual incidence of 1~2 people/10,000, especially 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.

Phenylketonuria, lack of pyruvate hydroxylase, phenylalanine can only be converted into phenylpyruvic acid through ammonia conversion, and patients excrete a large amount of phenylpyruvic acid in their 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.

Mitochondrial diseases are 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.