What are the symptoms of common rare diseases? How difficult is it to diagnose and treat rare diseas

The most common disease in life is orphan disease, which is a chronic disease, and has a great severity, which will endanger life and health. In addition to orphan diseases, diseases such as thalassemia are very difficult, and the chance of ** is less than 1%. The disease of porcelain dolls is also difficult, because the bones in the body are not well developed, so the body will be very petite, but a hug may make the patient have fractures, this disease is a hereditary disease, and it is also very difficult to get up with the current medical technology.

Because the main manifestation of this disease of porcelain dolls is the symptoms of bone deformity and fragile bones, even if it is just a gentle hug, it may cause the bones to break, if not in time, it will be easy to have lifelong disability. In fact, people with this disease are very short in stature, and their hearing is relatively poor, and they may become deaf over time, and their eyes may also appear blue. There is currently no way to treat this disease, but the quality of life of patients can be improved through surgery or medication.

Albinism is also a relatively rare disease, the main symptoms are ** and hair will appear white, it will be easy to sunburn in the sun, and when the sun is stronger, the eyeball is also very vulnerable to damage, most of the albinism patients have very weak vision. At present, there is no best way to do it, only to choose to reduce outdoor activities during the day. <>

Many rare diseases are relatively uncommon in life, but there will also be people suffering from these diseases, and most of the rare diseases are not the best way, although there are some ways to prolong life and improve the quality of life, but it will also be very painful in the process.

Common rare diseases include albinism, acromegaly, idiopathic pulmonary hypertension, mitochondrial disease, hemophilia, etc., all of which have some abnormal symptoms on the surface of the body and are difficult to **, which can barely maintain the daily life of patients.

There is no effective plan for albinism and idiopathic pulmonary hypertension, and it is difficult to treat other common rare diseases, and can only be effectively relieved, but rare diseases are almost not contagious, and patients should be treated in a protective and calm mind to avoid inducing mental illness in the patient.

The state has certain assistance for rare diseases in drug production, medical insurance and social security, personal rights and interests, etc., and basically ensures that patients have the conditions to purchase expensive drugs for rare diseases.

There are symptoms of weakness in the limbs, symptoms of loss of appetite, symptoms of dyspepsia, symptoms of abdominal pain and symptoms of dizziness, and the diagnosis and treatment of rare diseases is difficult, because with the current medical technology, this rare disease is not the best, so we must protect our own lives.

Rare Diseases** and when did they occur? How difficult is it to diagnose and treat rare diseases?

Rare diseases"Today is World Rare Disease Day, and my clinic also has a rare child with femoral dysplasia with hip dysplasia! This kid is my friend and my colleague. It will be very difficult for this child.

The first step will be reduction of the femoral head, which is equivalent to surgery for hip dysplasia. Because I am almost two years old, I can only choose surgery! The dysplastic part of the femoral head needs to be removed, and then the normal part is lengthened to the same length as the contralateral side, and then the two bones are surgically connected, and there are some details in between, such as how to ensure the normal development of the hip joint, how to lengthen the shortened thigh?

How to ensure that it does not shrink again after **? I wish there was a better, more reasonable, better way to ** her? Please advise!

We were all life-or-death patients in the intensive care unit and would be transferred out when our condition was stable, but there was one 17-year-old girl who stood out to me, not only because of her condition, but also because of her illness for the first time I learned about it. 17 years old is in the mood for love, but this girl does not see the breath of youth on her face, but has difficulty breathing and is not energetic. In our department, pulmonary hypertension has only been diagnosed, but the underlying disease has not yet been identified.

After the patient's condition is relieved, we recommend the patient to go to Beijing **** for further examination.

Later, the patient's mother called me and said that the patient had been diagnosed with Pompe disease through genetic testing. This is the first time we have heard of this disease, but after checking the data, we found that it is completely consistent with the patient's symptoms. Pompe disease is a lysosomal storage disorder that is inherited in an autosomal recessive manner.

Due to a mutation in the gene encoding acid-glucosidase on chromosome 17, the deficiency of acid-glucosidase in the body leads to the accumulation of abnormal metabolism of sugar in the lysosomes of muscle cells, resulting in severe neuropathy.

The incidence in the population ranges from 1 40,000 to 1 300,000. Infants develop onset soon after birth and develop dysphagia and swollen tongue gradually. Most children die before the age of 2 from respiratory or cardiac complications.

Advanced Pompe disease is characterized by progressive muscle weakness, exercise intolerance, progressive respiratory muscle involvement, and respiratory failure. The heart is rarely affected.

Common Rare Diseases:

1.Albinism.

It is a genetic disease that causes defects in melanin or melanosome biosynthesis due to mutations in different genes, resulting in pigment deficiency such as **, eyes, and hair. The ** and hair of albinism patients are albinic, easy to sunburn, most of them have nystagmus, photophobia, low vision and other phenomena, and there is no effective method at present.

2.Acromegaly.

It is a hyperproliferative disease of the pituitary gland caused by excessive secretion of growth hormone due to hyperplasia or tumor. The onset of gigantism in minors is manifested in the form of diffuse hypertrophy and thickening, thickening of facial texture, deepening of wrinkles, widening of nasolabial folds, and thickening of the tongue and lips. At the same time, the compression of pituitary tumors leads to organ lesions and the incidence of malignant tumors will increase accordingly, and the life expectancy will be shortened.

Incidence 6 18 million.

3.Idiopathic pulmonary hypertension.

It is a rare cardiovascular disease with an incidence of 1 2 million people per year, and a higher incidence in women. 60% of patients present with dyspnea, wheezing, chest pain, etc., and in severe cases, pericardial effusion occurs, resulting in right heart failure and can only be bedridden. The average age of the patients is around 30 years old, and it is currently a severe chronic disease that cannot be **.

4.Bentonuria.

In the absence of pyruvate hydroxylase, phenylalanine can only be produced by transamination to phenylpyruvate, and the patient excretes a large amount of phenylpyruvate in the urine. Phenylpyruvate buildup is toxic to the nerves and impairs mental development. The incidence of neonatal disease is about 1 in 50,000, and about 6 or 7 newborns with this condition are born each year.

5.Mitochondrial disease.

It is caused by mitochondrial DNA or nuclear DNA defects. Genetic defects lead to changes in functional proteins or structural proteins in the mitochondrial respiratory chain, loss of original functions, and obstruction of energy synthesis, resulting in a series of symptoms, such as epilepsy, migraine, dementia, hemianopia, aching limbs and obvious fatigue after activity, decreased vision, drooping eyelids, neural deafness, short stature, diabetes, cardiomyopathy, cataracts, etc.

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.