OTCD, except that it seems to be very similar to the abbreviation for over-the-counter drugs, the two are actually unrelated. In genetics, it also has a somewhat melancholy name, Ornithine Carbamoyltransferase Deficiency (OTCD).

OTC is an abbreviation for ornithine formyltransferase, and ornithine formyltransferase transferase deficiency is a common type of urea cycle disorders (UCDs). This is an X-linked recessive inheritance of ornithine formyltransferase gene defects.

Due to genetic mutations, the function of ornithine formyltransferase in the patient's body is malfunctioning, and the process of urea circulation is blocked. Ammonia cannot be excreted from the body in the form of non-toxic urea, so it can cause hyperammonemia. And high blood ammonia can have serious negative effects on the brain. Due to the accumulation of excess ammonia in the body, blocking the tricarboxylic acid cycle process, patients develop cerebral edema, extensive swelling of astrocytes in the brain, and multimorphological changes in the mitochondria of the liver. And then a series of symptoms such as vomiting, coma, drowsiness and so on.

The OTCD perfectly matched all of Chen's symptoms, and more importantly, it also explained why she had such a late onset – her strict vegetarianism had led to a limited amount of protein per day. And she did not show severe neurological symptoms at birth, but only showed hyperammonemia when she grew up. This may also mean that her OTCD is not "completely deficient" like other variants - the amount or activity of OTC in her liver is certainly lower than that of ordinary people, but it is also higher than that of other OTCD patients.

After getting this suggestion, which was almost a reference answer, Sun Lien suddenly realized, and fell into a somewhat subtle frustration.

If he first took a look at the patient before coming to the pediatrics, Sun Lien would be 90% sure that there would be a prompt such as "high blood ammonia level" on the top of Chen Tianyi's head. It is still difficult to reason to OTCD based on high blood ammonia, but at least there is a direction that can be worked on.

If you take a look at the status bar yourself...... Sun Lien suddenly shook his head vigorously. This kind of thinking is dangerous, and it is easy to lose the motivation and even motivation to work hard. After all, the status bar is an unconventional method, and Sun Lien himself doesn't know if it will suddenly fail at a critical juncture. If one day you suddenly find that the status bar is gone, and there is no patient who needs to be saved, forget it - it's a big deal to resign and go home, and hold Hu Jia, who may look disgusted, as a second ancestor who eats and waits for death. But what if a patient needs a status bar to save their lives?

We can't be satisfied with our current achievements, and we can't just focus on emergency and emergency medical diseases. Sun Lien secretly made up his mind that when this time the matter was almost over, he would definitely have to mention it to Dean Wu and include genetic diseases in the diagnostic test.

For science students, textbooks are not necessarily required to improve the level of application, and it is actually possible to brush up on questions.

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"OTCD?" Xu Yourong and Brune said these four letters in unison after hearing Sun Lien's request to test the patient's blood ammonia level on the phone. The two looked at each other, and then suddenly realized, "Yes!"

"Director Qian's level is still high. Sun Lien hurriedly put the credit on the hairless monster on the phone, "The people glanced at the image, and then went in this direction to doubt. I only saw an MRI for about 30 seconds. ”

Xu Yourong interjected, "We will do the blood ammonia test now, according to Dean Liu's request, this patient will still be in our care after that, right?"

Sun Lien was a little embarrassed, "Dean Liu didn't say it clearly, what he meant was that this patient would be handed over to us to see the situation first, and if necessary, we would take people in." He paused and asked, "The conservative treatment plan for this patient is simple, just give her arginine and sodium benzoate after the diagnosis, right?"

"If there is a cure, it can only be a liver transplant. Dr. Brunn frowned, "Gene therapy for OTCD failed in the nineties. No other clinical trials have been conducted. ”

"In addition to treatment, we also need to find the trigger for her sudden OTCD attack, right?" Xu Yourong added, "If she had been on a strict vegetarian diet, she probably wouldn't have made such a big progress suddenly." ”

Sun Lien thought for a while, "You first do a test for her blood ammonia, liver function, and urine orotate acid." Call me when the results come back and I'll talk to the parents to see what their willingness is to be treated. ”

"Then where are you going now?" Brunn keenly noticed Sun Lien's intention as if he was planning to be lazy, "If you go to the cafeteria, remember to help me get a roast duck rice and come back." ”

"I ...... I went to the ICU. Sun Lien had the illusion that he was back in a college dormitory. He managed to break free from this delusion, and said angrily to Brune, "If you want to eat roast duck rice, you can go in line by yourself!"

Roast duck rice is another masterpiece recently launched by the chef under the Jiangxi boss of the canteen of the fourth courtyard. It has managed to beat out many other competitors in the canteen of the Four Courtyards and has managed to become the most popular lunch and dinner in the entire Fourth Courtyard. There are countless people queuing up to buy every day, and there are even admiring diners and takeaway guys queuing up to run errands. To eat a roast duck rice, it takes more than an hour just to queue up. Although Brune is greedy, he is more afraid of the trouble of queuing. Therefore, as long as he seized the opportunity, he would always try to ask Sun Lien or Xu Yourong to help bring food.

"Line up yourself? Bruen didn't mean any "shame" at all, "You're going to the ICU now to see the patient with retroperitoneal necrotizing fasciitis?"

Sun Lien sighed helplessly on the other end of the phone, "It's like what Dean Song said-I've already put in an eyeball and a filial daughter for the rest of my life." You have to have a snack anyway. ”

After hanging up the phone, Sun Lien appeared at the door of the ICU. Under the "cover" of a group of security guards, Sun Lien quietly slipped into the ICU. Outside the ICU door, the blood stains on the ground have been cleaned up by the cleaning aunts, but Zhao Ming's family members gathered at the door. Although the overall order is still guaranteed, the tension in the air is still reminding Sun Lien to be cautious.

"There is no change in the patient's condition at the moment. The doctors in the ICU have long known that Sun Lien was "entrusted with important tasks" by Song Wen, so there is no surprise that he will appear in the ICU again in a short time - the doctors in the intensive care department are actually more sympathetic to Sun Lien. "It's okay, if anything changes, we'll call you directly. Don't worry so much about running here all day long. ”

"I'm not at ease if I don't come to see it. Sun Lien smiled bitterly, although he had full trust in his colleagues in the intensive care medicine department, he still walked to Qian Aiwu's side and looked at the status bar on the top of her head. After confirming that Qian Aiwu's symptoms were not worse, he was a little relieved.

"What is this?" After reading the status bar, he looked down and saw a small blue card next to Qian Aiwu's pillow.

"That'......" the doctor in the ICU looked a little emotional, "it was the patient's son-in-law who brought it, saying that the patient's grandson wrote a small card to wish the grandmother a speedy recovery." He sighed, "The patient's son-in-law just came here, put down the card and deposited 100,000 yuan in advance for the treatment - I don't feel good about this family's story." ”