Chapter 996: 996 Rare Diseases Are Not Necessarily New Diseases
"We won’t do a lumbar puncture for now. Let’s conduct another examination and perform a biopsy on the enlarged lymph nodes, focusing mainly on B lymphocytes."
Liu Banxia said after pondering for a while.
Huang Bo didn’t understand why, but since Liu Banxia said so, he had to comply.
"Doctor, do we have the results?" the patient’s wife asked.
"We still need to wait a bit longer to see what the latest test results show," Liu Banxia replied.
"However, considering his condition, you should prepare yourselves mentally; he might be transferred to the ICU at any time. Respiratory failure might occur later, which is also a late-stage manifestation of PCP pneumonia."
"Although we can provide symptomatic treatment, even if we administer drugs quickly, the disease might still progress to the next stage."
"Does he have to go to the ICU?" the patient asked worriedly.
Going to the ICU can never be good news. It not only means the illness is severe but also entails substantial expenses.
"This is just a possibility. We’ll see later whether our medication is effective quickly or if the disease progresses rapidly," Liu Banxia reassured.
"If we can make a judgment soon, treating both PCP pneumonia and the other undiagnosed condition, we might get unexpected results."
"Currently, your PCP pneumonia seems mild, so try not to overthink it. Lie down in the ward after we use a bedside ultrasound to find the enlarged lymph nodes and take samples."
The patient opened his mouth, wanting to say something, but didn’t know how to begin.
His condition surely was serious; he could guess that in one morning. Liu Banxia was in charge here, and since the leader said so, he had no choice but to comply.
"Huang Bo, inform the lab to expedite the samples after collection," Liu Banxia continued.
Huang Bo nodded, understanding this was an urgent order.
"Teacher Liu, my patient just experienced limb convulsions and incoherent speech. I suspect it might be significant brain inflammation. Can we perform a lumbar puncture to test the cerebrospinal fluid?" Su Wenhao ran over at this point.
"What’s the situation?" Liu Banxia asked with a frown.
He hadn’t expected it; the patient really seemed to have brain inflammation.
"After stool sampling and returning for infusion, nothing unusual happened initially. But suddenly, convulsions occurred, and afterwards, his speech wasn’t complete sentences, and he couldn’t answer our questions correctly," Su Wenhao explained.
"Do it. It’s probably brain inflammation. Also, notify ICU to prepare in advance; our ward facilities are inadequate, and make sure you protect yourself," Liu Banxia instructed.
"Alright."
Su Wenhao said, then rushed to the patient.
Brain inflammation is indeed a troublesome illness, with no specific cure, only symptomatic treatment.
If the patient has a high fever, antipyretics are needed. If there are convulsions, close observation is necessary, with sedatives ready at any moment.
Other psychological symptoms may require consideration of specific medication.
If there’s increased intracranial pressure, mannitol for dehydration and diuresis may be considered.
During this time, we search for the viral cause of the brain inflammation and consider antiviral treatment. This process won’t be quick, and the ward conditions are inadequate.
Although the patient’s symptoms suggest brain inflammation, it was initially just a suggestion. Even without testing cerebrospinal fluid, the patient’s symptoms strongly align.
He won’t participate in communicating with the patient’s father. Su Wenhao has been responsible for the entire case, so he will handle these matters as well.
Back in the office, there was some relief.
Today, both Su Wenhao and Huang Bo performed well. Even Huang Bo did well, considering his patient’s condition wasn’t easy to diagnose.
Making an early judgment of PCP pneumonia was already commendable.
After waiting a while, seeing Huang Bo come over, Liu Banxia gestured for him to sit beside him.
"Teacher Liu, the samples have been collected. What do you think this condition is?" Huang Bo asked curiously.
"It’s not very prevalent in our country but more common among Western populations," Liu Banxia replied.
"Humoral immunodeficiency, or Common Variable Immunodeficiency, CVID. It progresses slowly, creating misleading symptoms, and the incidence is not high domestically."
"A basic symptom is due to declining immune system function, leading to recurrent infections like pharyngitis, otitis media, pneumonia, etc."
"If uncontrolled after onset, many complications can arise, including malignant tumors. An already collapsed immune system makes cancer unavoidable."
"Previous diagnostics often overlooked this condition because many people already exhibited malignant tumor symptoms upon hospital admission, masking the illness."
"Another reason is the condition’s diverse manifestations. This makes it easily overlooked. I considered this illness due to the PCP pneumonia."
"If the pneumonia wasn’t noticeable, further searching might have been needed. This illness has affected the patient’s nervous system to some extent."
"Even with treatment, the patient’s future might not be optimistic, needing ongoing examinations and control."
"Ultimately, we must see the B lymphocytes’ performance to confirm the diagnosis. If they don’t show obviously in peripheral blood, only biopsy can determine it."
"The issue is primarily immunoglobulin synthesis deficiency or secretion defect—IVIG is the only effective therapy. So, it’s a vexing illness."
"Teacher Liu, did you determine this from the patient’s recurrent pharyngitis and otitis media?" Huang Bo asked.
"Well, how should I put it, it is somewhat related," Liu Banxia replied.
"The key was the patient didn’t have HIV, very low chance of malignant tumors, and wasn’t on immunosuppressants, making me consider other immune system diseases."
"These considerations, plus recurrent pharyngitis and otitis media, led me to this conclusion. It’s somewhat lucky, or more time would’ve been needed for a diagnosis."
"We might not have found anything during a lumbar puncture, possibly leading to a bone marrow biopsy, comparing steps, and considering lymph node biopsy last."
"This CVID is an immune system disease, but its manifestations differ from other such diseases."
"Others often have external symptoms, while this seems more foundational, fostering various diseases."
"Is it hereditary?" Huang Bo asked.
"There would likely be some immune issues in the family, but usually, if lifestyle is regular, there aren’t major problems," Liu Banxia explained.
"It can show familial or sporadic presentation. You should focus on the word ’variable’ in the disease name."
"The description arises because of variability in onset age, clinical manifestation, and pathogenesis. Affected organs often are lungs, bronchi, spleen, intestines, lymph nodes, and central nervous system."
"The current patient’s diarrhea may not be due to PCP pneumonia but possibly this disease. They share symptoms, making it hard to differentiate."
"I told you so much to convey that rare diseases aren’t necessarily new; they may have existed, just limited by previous medical conditions and knowledge, leading to misdiagnoses or missed diagnoses."
"That’s why medicine requires lifelong learning. Diseases can pass without notice; today’s patient was fortunate, as were we."
Huang Bo nodded, indeed realizing the truth of it.
If this patient’s pneumonia appeared as typical pneumonia, even if central nervous system issues were suspected and not discovered, treatment would end with pneumonia recovery.
In modern life, fainting isn’t unusual; stress, poor diet, and fatigue lead to collapses.
Fainting can affect the nervous system; without findings, the patient is discharged.
If unfortunate, the patient might be readmitted with malignant tumors in the future.
Then, as Liu Banxia said, all issues would be attributed to malignant tumors. Most likely, they’d be told to enjoy life—eat and go wherever they wish.
Naturally, neither the patient nor doctor would notice this disease.
This is just one condition; how many remain obscured and undiagnosed in humanity?
"No need to overthink. As medicine progresses, understanding diseases becomes clearer, aiding our judgment," Liu Banxia said with a smile.
"However, I’m not keen on pathology research; I prefer enjoying existing knowledge and focusing more on surgical techniques."
"Do what you should. When time permits, research can be done. That’s my plan." Liu Banxia advised, enjoying the journey of lifelong learning.
Huang Bo nodded, absorbing Liu Banxia’s guidance to avoid impractical ambitions. Thoughts could be had, but focusing on one’s duties was crucial.
