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The day before the interview, Professor Zhi Yuxiang, chief physician of the Department of Allergies of Beijing Union Hospital, received an email from a Guangxi girl. The girl in the email tells the story of 5 people suffering from genetic vascular edema (HAE). Her uncle died of throat edema due to this disease. Now the girl has also experienced facial edema, throat edema, and edema of gastrointestinal mucosa. She suspected that she also had HAE. Subult her for help through the mailbox.

Zhiyu Xiang has been engaged in HAE's research for 22 years. Searching for "hereditary blood vessel edema" on the Internet, the first items came out were the names of Zhiyu Xiang and her introduction and popularization of HAE. In China, Zhiyu Xiang's name has been deeply linked to HAE. Over the past 22 years, no matter whether she has been seeking medical treatment like a girl in Guangxi, it is also a misdiagnosis of patients who have been misdiagnosed for many years, and they have been properly managed in Zhiyu Xiang.

Her strong sense of responsibility prompted her to engage in HAE research

The related research of HAE is part of the perverted reaction department of Zhi Yuxiang. In 2000, Zhiyu Xiang obtained a doctoral student at the Union Medical University. The teacher recommended her research on a perverted response, because the incidence of perverted reactions at that time had risen, but few professional doctors engaged in the discipline in the country. With the development of the times, as the teacher's predictions, perverted response diseases have become a universal disease that plagues contemporary Chinese. Every year, more and more people are allergic to spring and summer pollen, drugs, food and other allergies. Local reactions such as sneezing and long rash may also be a systemic, life -threatening disease.

Professor Zhang Hongyu, the instructor of Zhi Yuxiang, is the leading HAE expert in my country. At that time, Zhiyu Xiang had many topics to choose from. The instructor strongly recommended her to do HAE research. "Teacher Zhang told me that the disease was relatively rare, because they did not know the disease, many patients often misdiagnosed the treatment, and they died without waiting for the hospital's diagnosis. At that time, few hospitals in the country could develop the diagnosis of this disease. Join this team. "

Professor Zhang Hongyu began to engage in HAE research in the 1980s. After nearly 20 years of accumulating cases, Zhiyu Xiang went to the medical department to investigate the pathogenic case. Zhiyu Xiang's page looked at the patient who was treated by the teacher. In the case, he recorded every diagnosis and treatment of Professor Zhang Hongyu and every check. Almost all patients who came to the doctor were suffering from illness for many years. They came to Beijing Union Hospital in pain and struggle. Finally, Professor Zhang Hongyu did not confirm and treatment.

There was a patient with throat edema in his thirties. Professor Zhang Hongyu spent the most difficult time in the ward with the patient all night. The teacher's sense of mission and the benevolent heart of the doctor deeply infected Zhiyu Xiang, which made her have a strong sense of responsibility for this diagnosis and life -threatening disease. Since then, Zhiyuxiang has not only studied HAE as a doctoral dissertation, but also studied it as his mission.

Raise the cognition of the public and doctors

It's a rare topic for eternal disease

"As long as the public and doctors have such concepts in their minds, HAE diagnosis is not difficult." Zhi Yuxiang said that most of the onset of HAE appeared as the limbs and facial edema. Patients often came to the perverted response department because of the allergies of the edema. , But HAE is a genetic disease, and conventional anti -allergic therapy is useless. In addition to the visual edema, patients can also be manifested as gastrointestinal mucosal edema. The external reaction is severe abdominal pain, so the patient's first consultation may also be in emergency or digestive department. Some patients had to have a caesarean discovery because of repeated abdominal pain that could not be cured and opened. Except for the extensive edema intestinal wall after opening the abdomen, there are no other abnormalities. Some patients are diagnosed with appendicitis and cut off the appendix, but it is not helpful to the condition. Another common clinical manifestation of HAE is also the most dangerous fatal symptoms is the throat edema. "Some patients did not have a clear diagnosis because they had suffocation due to throat edema during the onset. The uncle of Guangxi girls speculated that they died of throat edema. "Zhi Yuxiang said that patients with HAE who had not been confirmed in time, because the throat edema had been cut for more than a dozen bronchies, and the throat structure was messy, but the edema was still unexpected and unexpected. In the next, the next tube can only be cut, leaving a airway to survive, and the patient is extremely painful.

Over the years, in addition to the research of HAE, Zhi Yuxiang also explained HAE at various large and small conferences, and performed popular science in the media, hoping to plant the next seed in the hearts of the public and doctors. "For example, most of the allergies have obvious causes, edema and accompanied by cantroma, etc. The patient will itch, and the edema can be controlled with anti -allergic drugs." Single edema, the patient's pain but not itchy, and the use of anti -allergic medicine cannot be relieved. Therefore, for patients with repeated skin and limb edema, if they are accompanied by abdominal pain and/or throat edema, they may be considered as HAE. "In addition, if the patient has a family history, it is even more suspicious, because each child of the patient has a probability of 50%of the probability."

However, we should note that related foreign studies have shown that patients with about 1/4HAE have no family history, so there is no family history and cannot rule out HAE.

First introduce HAE molecular diagnosis

Establish a Chinese gene mutation

When studying in Zhiyu Xiang, HAE is also called C1 inhibitory deficiency. The diagnosis of HAE is to confirm the concentration and function of the tonic C1 inhibitor.

The lack of C1 inhibitors is divided into two categories. One is the low concentration of the supplement C1 inhibitor protein, the content is small, and the function is low, which is called type 1. Type 2 is the normal content of the supplement C1 inhibitor but the function is significantly reduced. Internationally reported that 85%of HAE patients were type I and 15%were type II. "In the past, we could only check the concentration of C1 inhibitors." Zhiyu Xiang said that as long as the concentration is not enough, we can diagnose HAE-1 patients. In order to prevent possible missed diagnosis, Chu Yuxiang took the lead in introducing the function detection of supplementary C1 inhibitors in my country, so that patients II patients could also be diagnosed.

With the development of medical care, the academic community discovered that the genes encoding the C1 inhibitory of C1 inhibitors mutated, resulting in a decrease in the protein concentration of C1 inhibitors or no function. "HAE is a genetic disease. The previous reports were from abroad. When I was studying, I was thinking that different genetic backgrounds would be clinically different? The ultimate solution is to see the genetic mutations of C1 inhibitors at home and abroad. Is it the same? "

Therefore, Zhiyu Xiang established a mutation of the Chinese C1 inhibitory gene. In recent years, the state has increased support for rare diseases. Professor Zhang Shuyang, Dean of Beijing Union Hospital, has initiated the establishment of a rare disease alliance in China to increase the concern of rare diseases in the society and make rare patients with more care. At present, HAE has been included in the first batch of rare disease catalogs in China, "it is No. 38." Chu Yuxiang said that the establishment of C1 inhibitory gene mutations has achieved the upgrade of HAE from biochemical to molecular diagnosis.

"The establishment of a genetic spectrum is a career that is conducive to Qianqiu. For example, some patients check the genetic mutations during the checkup. With the genetic spectrum, the screening of rare diseases becomes more convenient and accurate."

Xiehe Kai Monday HAE special disease clinic

New medicine for medical insurance has been released

The Beijing Union Hospital has completed preparations and will be opened in the near future. The time is every Monday morning. With the spare no effort to publicize the doctors and other doctors, there are more and more HAE patients who have come to see a doctor. The registered registration is difficult. Zhi Yuxiang's imagination can open a special passage.

"Thanks to the support of the hospital represented by Dean Zhang Shuyang's support for rare disease research!" Zhi Yuxiang's joy was overwhelming. After she applied to the hospital, the hospital gave great support at all levels. It is convenient for HAE patients to consult, so that patients with HAE patients can achieve early diagnosis and early treatment.

What's even more gratifying, HAE's treatment also has a new choice. In the past, the treatment of the acute seizure of HAE usually used frozen -dried fresh plasma to use the supplement C1 inhibitory to relieve the degree of edema. However, local hospitals have insufficient awareness of HAE and blood product indications. Many patients propose to use plasma in local hospitals. Active time, even delay.

In April 2021, HAE first -aid drug Aiden was listed in my country and included in the national medical insurance at the end of 2021. "Aitanter is a pre -charged drug, just like many adrenaline pens carried with him with him. We hope that HAE patients can always prepare Aitantt." You can save yourself by yourself. " In the past two decades, Zhiyu Xiang has started for patients for 24 hours and solves emergencies for them at any time. In 2018, she established HAE patients.

"Our data shows that it takes 13 years from the onset of onset, seek medical treatment to the diagnosis. We establish a patient tissue and introduce the detection method of C1 inhibitory function. Outpatient medical clinic, promoting new medicines. I hope to erected a large flag so that patients with HAE across the country can be diagnosed and managed properly. My teacher Zhang Hongyu started HAE research in the 1980s. I hope my teacher can see this In a scene, we ushered in the dawn of HAE in 40 years. I inherited his career. For 22 years, I did my best, no negative teacher's instructions, and no negative patients' expectations. "

On August 19, 2022, the fifth Chinese Physician's Day arrived as expected. The theme of this year's festival is "‘ medical ’heart and forge ahead!

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In order to further promote the implementation of the relevant work of health China, the Health China Action Promotion Committee has formulated the "Key Points for the Work of Healthy China 2022", and proposed that hospitals and medical workers as the main position and main army of medical care must play a good demonstration role -do it Go to "Healthy Chinese Medical Doctors". The Health China Action Promotion Committee, the National Health and Health Commission, the Ministry of Education, and the Ministry of Transport and other 13 departments jointly issued the "Notice on Carrying out the" Caring for Life Salvation "activity" and advocating the "Caring for Life Salvation" activity, speeding up to speed up Promote the high -quality development of the masses.

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As a result, under the guidance of the Office of the Health China Action Promotion Committee, the Medical News Agency and China Medical and Health Culture Association, China Medical and Health Development Foundation, China Health Promotion and Education Association, when the Fifth China Medical Day is coming, linkage North, Shang, Guang, Hangzhou-four cities subway, carry out the theme public welfare tour of the theme of "Healthy China and I Caring for Life 'Save".

Wonderful review of public welfare tour exhibition:

8 special lines in the north, Guangzhou -Hangzhou 4 places have been launched! The train will be equipped with 22 academicians including Academician Zhong Nanshan/Master of Chinese Medicine/National Medical Medicine, 145 Hospital Management Experts, and 1,582 medical elites of 1,220 public welfare tour posters. Passengers "intimate contact"! At the same time, the general poster video will cover 13,000 TVs on the subway and platforms on the 1st, 5th, 5th, 8th, 13th and Batong lines in Beijing, and the platform will be played many times a day. It is expected that the number of viewing will exceed 100 million!

Wonderful review of public welfare tour exhibition:

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Capture: Jia Weiwei

Edit: Jia Weiwei

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