This doctor has a system

Chapter 503 566. Then check everything for him

As mentioned before, Li Bin's father is not very smart, and it was his mother's idea to conceal these facts.

She felt it was a bad idea to talk about these things as it would affect her child's choice of major in college. Besides, it was all in the past.

"My son can't be mentally ill," she said. "He's already been admitted to university, how can you say he's mentally ill?"

The doctor in charge didn't want to tell her too much, so he inquired about her family history in detail before returning to the intensive care unit.

"Professor Gao, which direction should we check in?" he asked. We should know that genetic testing for inherited metabolic disorders must also be directional.

Inherited metabolic diseases are diseases caused by genetic defects in the biosynthesis of certain enzymes, receptors, carriers and membrane pumps composed of polypeptides and (or) proteins necessary for maintaining normal metabolism of the body, that is, mutations in the genes encoding such polypeptides (proteins). They are also called inherited metabolic abnormalities or inborn errors of metabolism.

Including metabolic large molecule diseases: including lysosomal storage diseases (more than 30 diseases), mitochondrial diseases, etc., metabolic small molecule diseases: amino acids, organic acids, fatty acids, etc.

Most of the causes of genetic metabolic diseases are caused by genetic inheritance, and some are caused by acquired gene mutations. The onset period is not limited to newborns, but covers all age groups.

Gao Feng really had no idea which direction to look in. He really wanted to know some of the daily living habits of Li Bin's eldest and third sisters, but unfortunately, no one could tell him.

This made Gao Feng feel a little complicated. It was a long time ago that Li Bin's eldest sister had an accident, but it was only three years ago that his third sister passed away.

Can three years erase all traces of a person's existence?

It is likely possible, he thought as he looked at Li Bin's slightly dazed father and tired mother.

When asked about Li Bin's living habits, we found out that he has obvious dietary preferences. He likes to eat meat, chicken, fish, and beans, and doesn't like rice, noodles and other foods very much.

"We mainly check for amino acid metabolism defects." Gao Feng thought for a while and said that the patient's blood ammonia level was significantly elevated.

His answer made Li Bin's attending physician very embarrassed, because there are many diseases related to amino acid metabolism defects, such as phenylketonuria, tyrosinemia, alkaptonuria, albinism, maple syrup urine disease, isovaleric acidemia, homocystinuria, congenital hyperammonemia, citrullinemia, hyperglycineemia, etc.

Even if we pass some obvious inconsistencies, such as albinism and alkaptonuria, the range is still too broad.

"I want to rule out tyrosinemia and congenital hyperammonemia first." The doctor in charge thought for a moment and said, "But I'm worried that if it's not one of these two, it will delay the treatment."

"Then check everything for him." Gao Feng said as a matter of course, "Finding out the cause of the disease is very important for the next step of treatment."

The doctor in charge suddenly remembered the saying: Why not eat meat porridge?

Can we check all of them?
Of course, the more comprehensive the examination is, the more helpful it will be in making a clear diagnosis.

But even if you only do two of them, it will cost at least 3 to 4 yuan.

If we do a comprehensive checkup, the cost will be very high. For the diseases mentioned above, the cost will be at least one million yuan.

This expense is definitely not something that ordinary people can afford. The attending doctor is very clear about Li Bin's family situation. Even if they sell the house, his parents cannot come up with such a huge sum of money.

"Oh, so that's it." Gao Feng said in a relaxed tone, "Youliang!" he shouted.

Li Youliang was hiding nearby and immediately understood what his boss meant.

"Okay, I'll arrange it today," he said.

"Can you arrange it? How?" Li Bin's attending doctor was a little puzzled. "The patient's financial situation is a bit difficult. It's not easy to arrange it."

What's wrong with this arrangement, Li Youliang thought, can't our boss work at his own expense?
Isn't it just about money? The boss has so much money now that he doesn't know how to spend it.

He communicated with Li Bin's parents and learned that someone would pay for the expenses. The two began to have some doubts, but they confirmed it repeatedly and were finally overjoyed.

When Wang Liang received the call, he was playing games with Ma Hui in the dormitory. The two of them had rediscovered the game DOTA during this period.

"Brother Hui, buy a ward!" he shouted, "The opponent keeps opening 5 to catch me!"

He played the enemy mage, known as a man with B. But even with the skill of Blink, he couldn't stand up to the enemy's large number of people, and died twice in 5 minutes. Now the Battle Fury was a bit far away.

"Okay, I'm buying it." Ma Hui replied.

Then less than a minute later, Wang Liang returned to the fountain to count down.

"Fuck, why don't you have a ward yet!" he said dissatisfiedly, "Are you so poor as a support? You can't even afford a ward?!"

"Almost there, almost there." Ma Hui was replenishing the troops very seriously.

Wang Liang accidentally glanced at his storage compartment and was stunned.

"Fuck you!"

"I told you to buy an eye, but you bought the Eye of Stephen!"

"You just say it's the eyes?" Ma Hui said.

But the ending was not bad, Wang Liang and his team won in the end.

"Brother Hui, please step down and leave the Eye of Stephen to me. We still have hope."

The opponent was also speechless. All the enemy mages were killed like dogs. In a blink of an eye, one person retreated, and then the opponent had an extra piece of magical equipment.

"Damn it, I'm so busy, I don't have time to do these." Wang Liang was a little dissatisfied when he received the task. He had been a caregiver for a long time. Just two days after he came back, someone sent him a blood sample and a list of test items.

Looking at the long list of projects, he protested, "How can we finish it in one week? Even if our team works themselves to death today, it's impossible."

"The big boss sent it here." Yue Penghui said to him, "If you can't do it, I'll find someone else."

"I am busy, but who else is free?" Wang Liang held the specimen tightly. "They are so tired, let me do it."

"I'm going to make this clear today. Even if our team dies from exhaustion today, we will definitely complete the boss's mission."

"You mean our laboratory can also make these things?" Gao Feng was quite surprised.

"Yes." Li Youliang replied. In fact, at the beginning he contacted a laboratory testing company that specializes in this business, but the other party was a little embarrassed after looking at the project list.

They can do it, but it will take a long time.

Naturally, Li Youliang couldn't accept it, so the salesperson had no choice but to tell him what happened.

"Several technical backbones have left. Not only am I too busy now, but many projects cannot be carried out." He complained, "Recently, it seems that there is a large laboratory in Beijing that is trying to do something and has been poaching people like crazy."

High-end testing talents are in great demand in the market now.

Li Youliang had no choice but to ask several more testing companies, but he didn't expect that their answers were almost the same.

In desperation, Li Youliang asked a few more questions and was surprised to hear a familiar name. Damn, isn't this the laboratory led by Teacher Xiong?
It turns out that he has been riding a donkey to look for a donkey.

After leading people to work overtime, Donkey Wang Liang finally completed all the projects.

When Gao Feng got the first glance at the report, he suddenly realized that it was this disease.

Citrullinemia is a rare autosomal recessive genetic disease characterized by a significant increase in blood citrulline concentration, leading to a urea cycle disorder.

It is divided into type I and type II, and the onset time varies greatly. It can occur within a few days after birth, or in childhood or adulthood.

In infancy, the main symptoms are poor feeding, vomiting, restlessness, drowsiness, and rapid breathing. The condition changes rapidly and may cause severe neurological symptoms such as opisthotonos, convulsions, loss of consciousness, central respiratory failure, and even death.

Some patients may experience symptoms of liver damage such as elevated liver enzymes and liver enlargement.

In children or adults, the only manifestation may be increased blood citrulline, with no obvious clinical symptoms or even no abnormalities.

Type II can also occur in the neonatal period, namely neonatal intrahepatic cholestasis, the main manifestations are cholestatic jaundice 1 to 5 months after birth, persistent jaundice with or without light-colored stools, mild enlargement of the liver or no obvious enlargement, abnormal liver function, fat round face, and severe cases may experience growth retardation, abnormal bleeding, anemia, hypoglycemia, and even liver failure.

However, many patients develop the disease in the age group of 11 to 79. Most patients are thin and have obvious dietary preferences, such as a preference for high-protein, high-fat foods, and beans, and an aversion to high-sugar foods (rice, fruit juice, etc.). Symptoms usually appear suddenly after drinking, consuming sweets, taking certain drugs, or infection.

The main manifestations are memory impairment, confusion, abnormal behavior (aggression, irritability, ADHD), delirium, etc. Severe cases progress rapidly and can be life-threatening if not treated properly.

Li Bin's diagnosis was clear: he had type II citrullinemia.

Seeing this result, the doctor in charge sighed and said that it was no wonder that Li Bin’s condition had not improved after being treated in the hospital for a long time. It turned out that his previous treatment methods had been wrong.

Because of the high blood ammonia levels, doctors have been prescribing a low-protein, high-carbohydrate diet, but in fact, a high-carbohydrate diet will aggravate the disease.

This type of patient is suitable for a ketogenic diet, that is, a high-protein, high-fat, and low-carbohydrate diet.

Since the cause of the disease is clear, the treatment quickly has a direction and focus.

One week later, Li Bin woke up completely, but he looked a little dazed, just like his father. This was obviously a sequelae of nerve damage, and it was unknown whether he could recover slowly.

Gao Feng felt some sympathy for this family, but it was all sympathy because there were too many people in this world who needed sympathy.

The diagnosis of genetic metabolic disorders is not an easy task in itself. In fact, many doctors are often reluctant to guide patients to undergo testing in this area.

The reasons are very simple. First, the testing cost is relatively expensive. Second, most of these genetic metabolic disorders are rare diseases, and even if they are diagnosed, there are no specific drugs available.

If this is the case, why spend so much money on testing?

When Gao Feng was doing his postgraduate studies, he followed Director Kong in the outpatient clinic and met a miserable patient. He had many lumps in his abdomen, difficulty swallowing, abdominal pain, weight loss, vomiting blood, black stools, and obstruction.

After examination, it was found that the patient had gastrointestinal stromal tumors and paragangliomas in multiple locations.

Carney-Stratakis syndrome was considered at the time.

The patient's condition was very bad, and there was no hope of recovery. His family was not well-off, and they had spent all their savings on his medical treatment.

However, the patient's desire to survive was very strong and he kept asking for further examination.

Director Kong thought for a long time and finally rejected the patient, suggesting that they return to the hospital for palliative care.

Kong Lingfeng also has the same idea. There is currently no cure for Carney-Stratakis syndrome, so what is the point even if it can be detected?

It is just a futile act to increase the financial pressure on patients.

But from Gao Feng's current perspective, he thinks this idea is wrong.

First, after the test, the disease status of family members can be evaluated: for example, if the sister is diagnosed with a certain disease, then based on the genetic pattern, it can be analyzed whether the siblings and grandparents are patients (mild symptoms) or carriers. Then, based on the confirmed diagnosis, disease management can be carried out, as well as reproductive risk assessment for family members.

If Li Bin's sister had been diagnosed earlier and received standardized treatment for the disease, she might not have died. At the same time, if Li Bin had been diagnosed earlier, the consequences of this acute crisis could have been avoided in a great degree. At the same time, the illness of the third sister and father could have been diagnosed, and the risks of the second sister's future marriage and childbirth could have been avoided.

It can also help other patients to be diagnosed: Sometimes in clinical practice, patients are diagnosed with some new mutation sites or new disease genes, and these sites will be entered into the gene bank under the evaluation of doctors and researchers.

This will help more other patients get diagnosed, and once diagnosed, there will be a circle of patients, so patients may not feel so lonely in their disease journey.

In addition, with the development of medical care, some genetic metabolic disorders have standardized treatments, such as supplementing coenzyme factors and circulating substrates to optimize metabolism; dietary management to reduce non-metabolizable substances. Early diagnosis and timely standardized treatment of such patients can prevent brain nerve damage, and the patient's intelligence and physical development can develop normally. After diagnosis, the current disease can be managed well.

Sometimes it can prevent the disease from getting worse, giving the patient some time to wait for gene therapy to cure it in the future.

Finally, there is one very important point. If everyone does not get tested, then the number of people diagnosed with the disease will not be large, and many opportunities will be lost, such as: pharmaceutical companies developing drug treatments, medical teams paying attention to the disease and developing disease care opportunities.

The nature of any pharmaceutical company is profit-seeking. If there are too few patients, pharmaceutical companies will have no motivation to develop drugs. This is something that anyone can understand.

But even so, who can solve the patient's problems?

As I said, the dead are gone, but the living must continue to live.

Gao Feng came up with an idea.

"Youliang, what do you think about us setting up a non-profit organization related to genetic testing?"

“For those patients who are in financial difficulty, several free visits are provided.”

"If you can help them find it"

Thinking about the future scenes, Gao Feng's mood inexplicably improved.

"I think so." Li Youliang thought for a moment and replied, "Our company can do this itself, and we have an advantage in terms of cost."

It shouldn’t be too much to lose, he thought.

Zhao Xingye received a call from his boss, asking him what he thought about the matter.

"Of course you can." He replied in a relaxed tone, "We have the people and equipment now. As long as we set up the equipment, we can start business soon."

To be honest, Manager Zhao was not very interested in these losing deals, but he could feel that the boss seemed very happy when he described it.

The boss is happy, so you'd better be happy with him. If he feels that you are unhappy, you will never be happy in the company for the rest of your life.

"You are really awesome." Director Fan said cheerfully. He also considered hereditary metabolic diseases, but he was just going in the right direction.

He is totally different from the other party, who would use his money to make money as soon as he disagrees with others and give the patient a full set of tests right away.

"It would be great if all the rich people in the world could become doctors," Director Fan fantasized. "If that were the case, medical technology would surely improve very quickly."

(End of this chapter)