I can see the status bar

Chapter 501 Genetic Diseases

Chen Tianyi's inspection is over.The brain waves were surprisingly unremarkable—at least for a patient with a Glasgow Coma Scale of 4, there was nothing unusual about her brain waves.Her test results did not directly support Brune's diagnosis of vCJD.

"The patient's family members also said that their family is a strict vegetarian." Sun Lien also informed his team of the results of his inquiry, "It is unlikely that she came into contact with beef from the epidemic area, and the possibility of vCJD is very low."

Bruen rubbed his face, "Well, it looks like I guessed wrong." He didn't look regretful at all.

"However, when I was collecting the medical history, I grasped a potentially important issue." Sun Lien said to Brun and Xu Yourong, "The patient's family members were married by consanguineous relatives."

"Near relatives? How close?" Bruen asked with his eyes wide open, "Bibs and sisters?"

"Ahem...not that close." Sun Lien smiled wryly, "cousins."

As a Texan, Bruin is showing a very "redneck" attitude here, spreading his hands, "That's not too close. But you should definitely consider the genetic aspect...is it sCJD? "

sCJD, sporadic Creutzfeldt-Jakob disease.It is basically equivalent to "mad cow disease with no source of infection and no history of exposure".The pattern of disease manifestations is very similar to that of vCJD.It is also the "almost dead" kind, and there is no special performance.All in all, sCJD is even more troublesome than vCJD.

"I think... Since it may be a genetic problem, then don't stare at CJD." Sun Lien put forward his own opinion, but this time he really has no confidence, so he seems a little cautious. "Other genetic diseases are also possible, right?"

"That range is too wide..." Xu Yourong was about to refute Sun Lien, but suddenly stopped.After thinking for a while, she asked, "Do you have any guesses?"

"Ah?" Sun Li'en was taken aback for a moment, then quickly shook his head, "I just inferred..."

"It is indeed possible that it is other genetic diseases, and the scope is not too large." Xu Yourong's tone became a little excited, "How many genetic diseases only develop in adults or close to adults?"

Genetic disease is widely recognized and valued by people, mainly because it is too harmful - protecting the next generation is the instinct of almost all living things, and humans are no exception.The characteristics of genetic diseases also make the disease manifest directly in infancy.There are not no genetic diseases that have a delayed onset in adulthood or close to adulthood, but they are always much less than known.

"It seems... not much." Sun Lien followed Xu Yourong's train of thought and thought about it before he understood what she meant. "And most of these genetic diseases that hide until adulthood require an inducement."

"She recently vomited, and the vomiting was so severe that it was necessary to use a strong central nervous system antiemetic. This is most likely the beginning of a genetic disease." Xu Yourong continued to talk to herself, "Then , What genetic disease can cause vomiting? What is the cause of her vomiting?"

"She took ondansetron, and it worked." Bruen also participated in the reasoning, "so it must not be Meniere's syndrome."

"She has muscle tremors, and her development progress is normal. So it doesn't look like propionic acidemia." Sun Lien began to expand his thinking towards inborn metabolic diseases, "and her family is a strict vegetarian, if it is favism, it should have developed early gone."

Xu Yourong continued to conduct diagnosis in his professional field, "Neither CT nor MRI found cavernous hemangioma, so it is definitely not a cerebrovascular accident."

"PJ?" Dr. Brunn had just made a hypothesis, then shook his head and dismissed it. "Her lips looked clean, with no signs of pigmentation."

Sun Li'en suddenly came alive, "Her delayed onset, could it have something to do with her family's eating habits?"

Dr. Brunn was a little confused, "Phenylketonuria? It shouldn't be, her IQ development is normal."

"No, no, no, it's not phenylketonuria." Sun Lien said eagerly, "It may be some kind of protease deficiency. She never eats meat, so the onset was delayed until she was close to adulthood."

"Then what kind of protease deficiency is it?" Xu Yourong asked the most fundamental question, "There are many kinds of protease deficiency."

There was an awkward silence in the small conference room.The three of them stared at each other.All three of them felt that the delayed onset genetic disease was very likely, but none of them could figure out what kind of protease deficiency it was.

"We are not professional in dealing with genetic diseases." Sun Lien smiled wryly twice, he did not expect this situation.He had an intuition that his deduction was right.But neither of the other two MDs knew exactly what it was...which was a bit of a hassle. "Well, I'm going to ask someone to come for a consultation."

The thought in Sun Li'en's mind was to trouble the old man again.Anyway, this kind of exhaustive diagnostic content is most suitable for computers.Although I have asked the old thing for help once before because of the problem of diagnosis, it seems to be no problem to ask for help again.

"Just ask the pediatrician." Dr. Bruen said directly after pondering for a while, "I remember that our hospital doesn't have a special genetic disease department, so it should be the most appropriate to ask a pediatrician to see genetic diseases." After working in the Fourth Hospital for half a year, Brunn finally got used to calling the Fourth Hospital "our hospital".

·
·
·
"Genetic disease?" It still looked like it was about to die suddenly, and it was still the pediatric office that seemed to be the scene of a natural disaster of the undead.A doctor with panda eyes slowly raised his head, staring at Sun Lien in bewilderment, his eyes drifted over his face several times before finding the focus, "Genetic disease...huh?"

Although he couldn't bear to disturb people's rest time in the midst of busy schedules, but after all, he was carrying a human life on his shoulders. No matter how hard he could bear it, Sun Lien had to ask, "Yes, it is likely to be a genetic disease that is delayed in onset due to vegetarianism."

"Genetic disease..." He looked really tired, but Sun Lien could tell from his expression that he was trying to make his brain work, and recommended Sun Lien a pediatrician who was good at diagnosing genetic diseases.

"How about...you should invite Director Qian." After thinking for a long time, the doctor slowly lowered his head and became confused again, "Director Qian is very famous for hereditary diseases..." Accompanied by a cry, he Falling asleep again.

Sun Li'en sighed, he still had to invite the bald monster.

Today's chief pediatric clinic is still full of anxiously waiting parents.The door of the consulting room seemed to be just a decoration, and the parents hugged their children and squeezed into the consulting room, completely ignoring that there were more children and parents in front of them.The entire consultation room was as crowded as a can of sardines—this description is not an exaggeration. Sun Lien took the printed MRI examination results and tried five or six times but failed to squeeze into the consultation room.

"Director Qian, Director Qian!" Seeing that it was impossible for him to squeeze into the room, Sun Lien shouted into the room anxiously, "I have a patient here, it may be a genetic disease!"

The influence of the word "genetic disease" in pediatrics is comparable to that of infectious diseases in respiratory medicine.Just as Sun Li'en finished shouting, the sardine can suddenly gave way to a road about [-] centimeters wide.The parents holding their children were shrinking back, trying to make way for Sun Lien.

"Hurry up and go in." A young mother holding her child glanced at the MRI bag in Sun Lien's hand with some worry and fear, "Don't dare to delay the genetic disease, you have to find a way to cure it!" Like an expert, be confident in your own perception.

Sun Li'en nodded quickly, then squeezed into the room with the bag in his hand, and approached Qian Hongjun's desk with difficulty.

Qian Hongjun didn't talk nonsense with Sun Liend. He took out the MRI image and looked at it. After briefly asking about the patient's condition, he directly suggested, "Check blood ammonia, liver function, and urine orotic acid. This may be a OTCD."

　Please actively leave a message and reply in the comment area, we are almost on the third level, and we will be able to start activities soon!
　　
　
(End of this chapter)