Chapter 21 Hereditary Diseases
Chen Tianyi's inspection is over. The brainwave test was surprisingly unusualβat least for a patient with a Glasgow coma score of 4, there was nothing special about her brainwaves. Her findings do not directly support the diagnosis of Brunn's vCJD.
"The patient's family also said that their family is a strict vegetarian. Sun also informed his team of the results of his inquiry, "It is unlikely that she will come into contact with beef from the affected area, and the probability of vCJD is very low." β
Brune rubbed his face, "Well, looks like I guessed wrong. He didn't see any regret at all.
"But when I was taking my medical history, I had a question that could be important. Sun Lien said to Brune and Xu Yourong, "The patient's family is a close relative marriage. β
"How close?" asked Brunn, his eyes wide, "brother and sister?"
"Ahem...... It's not that close, either. Sun Lien smiled bitterly, "Cousin and sister." β
As a Texan, Brunn is showing a very "red-necked" attitude here, spreading his hands, "It's not too close." However, it is true that genetic aspects should be considered...... Is it sCJD?"
sCJD, sporadic Creutzfeldt-Jakob disease. It is basically equivalent to "mad cow disease where the source of infection and contact history cannot be found". The type of disease presentation and vCJD are very similar. It's also the kind of "almost dead", and it's also not peculiar. All in all, sCJD is even more cumbersome than vCJD.
"I think so...... Since there may be a genetic problem, don't stare at CJD. Sun Lien put forward his own opinion, but this time he really didn't have much confidence, so he was a little cautious. "Other genetic diseases are possible, right?"
"That's too wide......" Xu Yourong was about to refute Sun Lien, but suddenly stopped. She pondered for a moment and asked, "Do you have any guesses?"
"Huh?" Sun Lien was stunned for a moment, and then quickly shook his head, "I just reasoned ...... reasoning"
"It's possible that there are other genetic diseases, and the scope is not too large. Xu Yourong's tone was a little excited, "How many genetic diseases are developed in adulthood or close to adulthood?"
Genetic diseases are widely recognized and valued, mainly because they are so harmful β protecting the next generation is the instinct of almost all living beings, and humans are no exception. The nature of genetic diseases also makes this disease manifest itself directly in infancy and early childhood. Genetic disorders that develop late into adulthood or close to adulthood are not absent, but they are much less common than are known.
"Like...... Not much, really. Sun Lien pondered along Xu Yourong's train of thought, and only then did he understand what she meant. "And most of these genetic diseases that don't develop until adulthood need a trigger. β
"She had been vomiting recently, and it was so severe that she had to use a strong central nervous system antiemetic. This is most likely a sign that a genetic disorder is starting to develop. Xu Yourong continued to mutter, "So, what genetic disease can cause vomiting, and what is the cause of her vomiting?"
"She took ondansetron and it worked. Brunn was also involved in the reasoning, "so it's certainly not Meniere's syndrome." β
"She has muscle tremors and is developing normally. So it's not like propionic acidemia. Sun Lien began to expand his thinking in the direction of congenital metabolic diseases, "And her family is a strict vegetarian, if it is broad bean disease, it should be very early." β
Xu Yourong continued to diagnose in his own professional field, "CT and MRI did not find a cavernous hemangioma, and it was definitely not a cerebrovascular accident." β
"P-J?" Dr. Bruhn had just come up with a hypothesis, then shook his head in denial, "her lips looked clean, with no signs of pigmentation. β
Sun Lien suddenly came to his senses, "Will her delayed onset have anything to do with her family's eating habits?"
Dr. Bruhn was a little confused, "Phenylketonuria? no, her IQ development is normal." β
"No, no, no, it's not phenylketonuria. Sun Lien said eagerly, "It may be some kind of protease deficiency." She never ate meat, so the onset was delayed until near adulthood. β
"What kind of protease deficiency is exactly?" Xu Yourong asked the most fundamental question, "There are many kinds of protease deficiency." β
There was an awkward silence in the small conference room. The three of them stared at each other with wide eyes. All three of them thought that a late-onset genetic disorder was very likely, but none of them could figure out what a protease deficiency it was.
"We're not professional in genetic diseases. Sun Lien smiled bitterly twice, he didn't expect this situation. He had a gut feeling that he was inferring in the right direction. But neither of the other two MDs knew exactly what it was...... That's a bit of a hassle. "Well, I'll go and ask someone for a consultation. β
Sun Lien's thought in his heart was to trouble the old thing again. Anyway, this kind of exhaustive diagnosis is best suited for computers. Although I had already asked the old thing for help because of the diagnosis problem before, it seemed that there was no problem in asking for help again.
"Just call the pediatrician. Dr. Brunn pondered for a while and said directly, "I remember that our hospital does not have a special genetic disease department, so it should be most appropriate to ask a pediatrician to see genetic diseases." After working in the Fourth Hospital for half a year, Brune finally began to get used to calling the Fourth Hospital "Our Hospital".
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"Hereditary disease?" still looks like he is about to die, and it's still the pediatric office that looks like the scene of a natural disaster. A doctor with panda eyes slowly raised his head, stared at Sun Lien in a daze, and a pair of eyes floated on his face several times before he found the right focus, "Genetic disease...... Huh?"
Although he couldn't bear to disturb other people's rest time in his busy schedule, after all, he was carrying a human life, and Sun Lien couldn't bear to ask, "Yes, it is likely to be a genetic disease that will delay the onset of the disease due to vegetarianism." β
"Genetic disease......" He looked really tired, but Sun Lien could tell from his expression that he was trying to get his brain running and recommend a pediatrician who was good at diagnosing genetic diseases to Sun Lien.
"Or ...... You'd better hire Director Qian. After thinking for a long time, the doctor slowly lowered his head again and began to be confused, "Director Qian is very famous for engaging in genetic diseases......" With a burst of voices, he fell asleep again.
Sun Lien sighed, and he still had to invite the bald monster to do it.
Today's pediatric director's office is still crammed with anxiously waiting parents. The door of the examination room is as if it were just a decoration, and parents huddle into the examination room with their children in their arms, completely ignoring the fact that there are more children and parents in front of them. The entire examination room was crowded like canned sardines β a description that was not an exaggeration, and Sun Lien took the printed MRI results and tried five or six times to make it in.
"Director Qian, Director Qian!" Seeing that it was impossible for him to squeeze into the room, Sun Lien shouted into the room in a hurry, "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. As soon as Sun Lien finished shouting, the sardine canned suddenly gave way to a road about twenty centimeters wide. The parents holding the children were all shrinking back, trying to make way for Sun Lien.
"Let's get inside. 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 genetic diseases, you have to find a way to treat them quickly!"
Sun Lien nodded hurriedly, then squeezed into the room with the bag in his hand, and approached Qian Hongjun's table with difficulty.
Qian Hongjun didn't talk nonsense with Sun Lien, he took out the MRI image and looked at it, and after briefly asking the patient's situation, he directly made a suggestion, "Check blood ammonia, liver function, and urine orotate." This could be an OTC. β