This doctor has a system

Chapter 266 255. Rare Disease HEA
Regardless of what Hu Jiaran and Zhao Xingye were thinking, Gao Feng decided to do something about the ALK gene mutation when he went back, otherwise his trip would be in vain.

"What are you doing over there?" Gao Feng saw that the conference room next door was also very lively.

"The hospital has newly established a joint rare disease clinic." Xiong Huaxin, who accompanied him during the visit, said after asking about it.

"Joint rare disease clinic?" Gao Feng suddenly became interested, "Let's go and have a look!"

"Don't you want to see the laboratory?" Xiong Huaxin asked.

"Looking back, as long as you, Teacher Xiong, are here, why can't I go there?" Gao Feng replied.

Rare diseases are also called "orphan diseases", which are diseases with an incidence rate of less than 1/1 newborns, a prevalence rate of less than 14/[-], and a disease population of less than [-].

There are more than 7000 known rare diseases in the world. There are more than 2000 million rare disease patients in China, with more than 20 new patients every year.

You must have heard of albinism, which is a rare disease. It is a genetic disease caused by mutations in different genes, leading to defects in the biosynthesis of melanin or melanosomes, which manifests as a lack of pigment in the skin, eyes, hair, etc.

People with albinism have white skin and hair, are prone to sunburn, and mostly suffer from nystagmus, photophobia, low vision, etc. There is currently no effective treatment.

“Due to the low incidence of rare diseases, the research resources available to them are very limited. Some pharmaceutical companies are also lack of interest in the research and development, manufacturing or introduction of drugs and food for rare diseases based on economic interests. In addition, many diseases There are not many cases, making it very difficult to study these diseases. Even if symptomatic drugs are developed, because the patient market is relatively small, the price is astonishingly high and cannot be afforded by patients."

"Our original intention of establishing the joint rare disease clinic is to brighten the future of more rare disease patients and enhance their confidence in defeating the disease."

X He is indeed the top medical institution in the country. Gao Feng nodded frequently in the audience. He suddenly remembered the medical record of a rare disease he had seen during his internship - osteogenesis imperfecta.

Osteogenesis Imperfecta, also known as "Porcelain Baby Disease", is the most dangerous type of rare diseases.It is a congenital skeletal disease in which the mesenchymal tissue is underdeveloped, resulting in bone fragility or fractures. It is characterized by that patients often suffer fractures with minor trauma or even no obvious trauma.

The patient was a newborn. The nurse just patted his butt gently, and then he suffered fractures of his tail vertebrae and ribs.
These patients suffer from as few as a few fractures to as many as hundreds of fractures during their lifetime.Therefore, osteogenesis imperfecta is also called "brittle bone disease".

At that time, Gao Feng came into contact with the patient who had type II (perinatal lethal type) and died 10 days after birth. This left a deep impression on him. For the first time, he knew that there were still people in this world. Such a terminal illness.

"Through multidisciplinary collaboration, we hope to make a timely diagnosis and allow patients to receive treatment or relieve pain in a timely manner."

"Will the clinic open tomorrow?" Gao Feng asked.

"Yes, we have actually opened the clinic on a trial basis for a month. Tomorrow is the official opening date as advertised." Li Youliang just went to consult the staff next to him, "Don't tell me, big hospitals have big hospitals. Taking responsibility, this is obviously something that cannot be done without efforts, and it cannot bring economic benefits to the hospital. It is probably not possible except for X and other places."

"It should bring some fame to the hospital." Ma Huilan said.

"Does X and the hospital still need fame?" Li Xun asked rhetorically.

It seems that they don't need it. They are already at the peak of their popularity in China, so this little bit of fame means nothing to them.

The King of Hell wants you to die at the third watch, and Xiehe will keep you until the fifth watch. This saying is widely circulated in the medical community.

There once was an interesting thing. Before the review of X and Hospital's top three hospitals, the expert team came and carefully scored according to the score sheet. It was found that if the real situation was true, X and hospital's top three grade would not be guaranteed.

This made the person in charge of the review extremely anxious. He quickly ordered the review work to be stopped, and then urged X and the hospital to conduct self-examination and self-correction.

"You are a veteran top three player. After discussion, we decided to give you a chance!"

A month later, the expert group came again and found that it was still the same. The person in charge of the review group cursed in his heart for a while, and then gave the pass.
"I can't help it. They don't want the opportunity. I have to appreciate it! If I really can't pass the review and they have nothing to do, I will definitely be unlucky!"

"Don't rush back now, I'm going to the rare disease clinic tomorrow to have a look!" Gao Feng said.

"Li Xun and the others probably can't stay here much longer. They have to be on duty in the department." Li Youliang hesitated.

"Then let everyone go back first. Just the two of us stay here."

Early the next morning, Gao Feng and Li Youliang went to the joint rare disease clinic on the east side of the third floor. It was only 3:7 and there were already five patients lined up.

The doctor attending today's consultation was Director Fan Enfu of the Department of Endocrinology. Gao Feng looked at the introduction and saw that his resume was five pages long!The positions of various associations alone take up 5 pages. Doctors and patients will definitely feel a sense of security when they see this kind of information.

"So many patients!" Director Fan Enfu was stunned for a moment when he came to the clinic. He originally thought that no one would come today.

"Professor Fan, hello, I am Gao Feng from Hnan Provincial People's Hospital." Gao Feng led Li Youliang into the consulting room, "I'm sorry to disturb you today."

"Haha, please take a seat. Academician Bao has told me that you are welcome to guide the work." Director Fan Enfu's students quickly pulled up two stools.

"Don't dare, don't dare, I came here today just for the purpose of studying."

The two exchanged pleasantries, and the student called in the first patient.

The patient is a middle-aged man, 36 years old, with a sad face.

"What's wrong with you? What's wrong with you?" Director Fan Enfu asked, and the students on the side quickly opened the medical records and were about to type on the keyboard.Li Youliang felt that this scene was so familiar. His hands suddenly felt itchy. He hadn't written an outpatient medical record for a long time.

"My situation is quite complicated." The patient scratched his head.

Zhang Binbin has suffered from repeated swelling of his face and limbs for 20 years. He has had laryngeal edema 5 times. Each attack was about a year apart and he was hospitalized many times.

"Last time I stayed in the intensive care unit for a week and almost had a tracheotomy!" Zhang Binbin was a little scared when she mentioned the last hospitalization experience. "I was eating when I felt uncomfortable in my throat and had difficulty breathing. My friend said my face was swollen. Woke up"

"Thankfully 120 came quickly, otherwise I would have died!"

"I seem to be feeling a little sick again in the past two days, and my eye sockets are swollen." He pointed to his right eye for Director Fan to see.

"It's really swollen." Gao Feng also saw it, and the contrast with his left eye was obvious.

"Where are your previous medical records?" Professor Fan's student asked.

"Here it is." The patient hurriedly ran out of the consulting room and brought in a huge backpack. "It's all in there!"

This is too much!The corner of Director Fan's mouth twitched, "Professor Gao, come and take a look. Let's consult him together."

Judging from Zhang Binbin's treatment process, he was diagnosed with allergies by the local hospital every time he had an attack, but there was no specific explanation of what caused the allergies.

The most serious one was 2 months ago, when he suddenly experienced subcutaneous swelling and swelling on his face, accompanied by swollen lips, followed by a foreign body sensation in the throat and difficulty breathing, which quickly progressed to suffocation, accompanied by severe abdominal pain, nausea, and vomiting. The local hospital used glucocorticoids, antihistamines, epinephrine and other drugs, and the symptoms gradually eased after more than 20 days.

"I can only stay at home now. I don't dare to go anywhere. If I feel sick, I have to run to the hospital!" Zhang Binbin sighed. He quit his job long ago. Fortunately, his family's financial situation is good.

His parents were worried about his condition. When they heard that Xiehe University had opened a joint clinic for rare diseases, Zhang Binbin decided to come and try his luck. "Your situation is very complicated!" Director Fan frowned. This was obviously not his specialty. He thought for a moment and took out his cell phone and decided to call. This is the advantage of the joint clinic.

"Lao Guo, there is a patient who needs you to come and see him."

Director Guo from the Department of Dermatology arrived at the scene quickly. He looked at Zhang Binbin for a long time, and then carefully read the medical records.

"Wait a minute, I'll call someone."

Zhang Binbin

"Lao Zhou, there is a patient who needs you to see him."

Director Zhou from the allergy department limped to the joint rare disease clinic. He was a polio patient.

Poliomyelitis, also known as poliomyelitis, is an acute infectious disease caused by poliovirus infection. Humans are generally susceptible, mainly affecting children under 5 years old.

When Director Zhou was a child, he suffered from paralysis of the proximal large muscle group in his right lower limb. This factor was also an important reason why he devoted himself to medicine at that time.

"It's quite inspiring!" Li Youliang admired him very much. There is no doubt about his ability for a person with handicapped legs and feet to occupy a place in Xhe Hospital.

"It's definitely not an ordinary allergic disease." Director Zhou was very sure. "You see, the last time he was admitted to the hospital, the doctor there gave him timely application of the glucocorticoid methylprednisolone and epinephrine, but there were no symptoms at that time. Significant relief!”

“Does this happen with common allergies?”

Obviously not. Hormones and epinephrine are very effective against conventional allergic diseases. Director Fan has been working for so many years and has never heard of any allergic disease that is ineffective against the above two drugs.

"I seem to have read some foreign literature, and the symptoms are very similar to his." Director Zhou frowned, "But I can't remember it at the moment."

"Why did you fail at the critical moment?" Director Guo of the dermatology department said dissatisfied.

"I'll check again when I get back."

"Could it be HAE?" A voice suddenly rang.

"What?" Director Guo
"HAE?" Director Fan
"This is this?" Director Guo of the Dermatology Department was stunned when he saw Gao Feng.

"Hello, Director Guo, I am Gao Feng from Hnan Provincial People's Hospital." Gao Feng introduced himself, "I am very interested in the joint rare disease clinic of our hospital, so I came here today."

"Yes! It's HAE!" Director Zhou of the Allergy Department interrupted Gao Feng, "This patient's symptoms are very consistent!" He looked at Gao Feng, "Who are you?"

"This is Professor Gao." Director Fan said.

"Professor Gao, have you ever encountered such a patient before?" Director Zhou was very curious, so young, professor?

"That's not true, but I have browsed several foreign related documents, which have specific descriptions of this disease."

HAE, hereditary angioedema, is an autosomal dominant disease characterized by recurrent, unpredictable cutaneous and submucosal edema.

"Related to C1-INH, ANGPTI, PLG, F12 and other gene mutations."

"Yes, yes!" Director Zhou's eyes lit up, "Is Professor Gao also an allergist?"

"No, I'm a respiratory doctor."

"Then your knowledge is too broad!" Director Zhou praised.

They started chatting here, but Zhang Binbin beside him was very anxious.

"Leaders, what's wrong with me?" He couldn't sit still. Seeing that the illness that had plagued him for 20 years was about to reveal its true colors, his heart was beating fast.

"What is your consideration?" Before Director Zhou could finish speaking, he was suddenly stunned.

Zhang Binbin's face became swollen at a speed visible to the naked eye, and Gao Feng and others on the side were shocked.

"Are you okay?" Mr. Fan, the student, was a little panicked.

"I seem to be sick again and can't breathe!" Zhang Binbin began to gasp for air after finishing speaking.

"Call the doctor!" Director Fan's student rushed out of the clinic and shouted at the triage nurse.

"What?" The little nurse was a little confused. Aren't you doctors?

"Emergency! Hurry! Let the emergency department come over and get the patient!" Director Zhou, who suffered from polio, didn't even need crutches and jumped out of the clinic. "This patient is suffocating!"

"What the hell?" Li Youliang sweated as he looked at the situation in the consulting room. "Isn't it okay?" he asked Gao Feng.

"It shouldn't be so." Gao Feng was also a little nervous. His little self-satisfaction had already flown out of the sky. Now he only hoped that this patient could turn the corner.

"Is this an allergy?" Looking at Zhang Binbin who was swollen into a pig's head, the emergency doctor was stunned for a moment, "Laryngeal edema?"

"He has hereditary angioedema!" Gao Feng said quickly.

"What?" The emergency department doctor was a little confused. He had never heard of this disease at all.

"Teacher, come with us!"

Gao Feng and Li Youliang hurriedly followed, and everyone worked hard together, causing the flat cart to fly up.

"Slow down! I can't control the direction!" the nurse in front said anxiously.

"Quick, intramuscular injection of 1 vial of epinephrine! Establish an intravenous channel and give 80 mg of methylprednisolone sodium succinate intravenously!" the emergency doctor howled loudly, "Bring over the tracheotomy bag too!"

"I'm afraid this medicine won't work!" Gao Feng said, "Hereditary angioedema is basically ineffective against hormones and epinephrine!"

"What medicine should I use?" Several doctors from the emergency department gathered around him at this time.

"Is there any icatibant acetate injection?"

(End of this chapter)