The Enhanced Doctor-Chapter 609 Autosomal Recessive Inheritance

Early the next morning, Liu Banxia and Wei Yuan arrived at the ward of the patient from the previous day.

The results of yesterday’s X-ray of her long leg bone weren’t very optimistic. Although the proportional increase in the width of the medullary cavity wasn’t substantial, the signs were there.

Therefore, the patient could no longer just be kept under observation; she had to be admitted to the hospital. Even without a definitive diagnosis yet, there were already indications pointing towards this type of illness.

Now, they were waiting for the results of the β-glucocerebrosidase activity test, which were expected this morning.

"Dr. Liu, you won’t tell me how serious it is," the patient said.

"It’s mainly because it hasn’t been confirmed yet," Liu Banxia replied. "If I told you now, you might not sleep well all night. We’ll know soon enough. Doctor Xu has already gone to get the results."

"I can’t sleep well even if you don’t tell me," the patient said. "At least you have to tell me if my illness can be cured, right? If you don’t say anything, I’ll just be more worried."

"Our tradition here is to reward patients with chicken drumsticks. If you hang on a little longer, I’ll upgrade you to a reward of a pork trotter," Liu Banxia said with a smile.

The patient looked at him with a hint of resentment. "If you tell me now, I’ll have my husband buy pork trotters for all of you. This feels like waiting for a death sentence; the less you tell me, the worse the illness must be."

Liu Banxia could only offer a smile but didn’t say anything more.

If this were in the past, he might have directly told the patient that her illness was likely Type I and treatable. But now, he didn’t dare to speak so casually. The classification of this disease is crucial. Type I is manageable. However, Type II or Type III would be much more complicated. Frankly, even with medical intervention, the prognosis for those types isn’t good. Type II is acute; most patients die from secondary infections within a year of onset, with very few surviving more than two years. Type III is subacute and also neurological. It damages the patient’s nervous system and often leads to death from complications. His personal judgment leaned towards Type I or Type III. The main reason was the symptom of "clumsiness." Currently, it was uncertain whether this was caused by anemia, the enlargement of the marrow cavity in the long bones, or neurological factors. If he told the patient now that it was curable, what if it turned out to be Type III? For the patient, that would be an absolutely devastating blow, far crueler than directly telling her the true, albeit difficult, prognosis from the start. This was a sign of his growth; he wasn’t as impulsive as before and considered things more thoroughly. Both approaches stemmed from consideration for the patient. However, a different perspective—a different "standing height"—led to different points of emphasis, and consequently, different outcomes.

After waiting for more than ten minutes, Xu Yino came running up with the test results. "Teacher Liu, 40 percent! It’s Type I! Type I!"

Liu Banxia and Wei Yuan’s expressions immediately relaxed, and smiles spread across their faces.

DING! Task: Unexplained Splenomegaly - Completed.

Reward: 500 Experience Points, Diagnostic Skill Proficiency +100 points.

Task Rating: Perfect. Bonus Reward: 1,000 Experience Points, Diagnostic Skill Proficiency +100 points, 10 Glory Points.

DING! Congratulations, Host level increased to 54 (158,605/158,130 XP). Reward: 1 Attribute Point, 5 Glory Points.

DING! Congratulations, Host’s Diagnostic Skill has increased to Level 5. Basic diagnostic skills mastered. Subsequent Diagnostic Skill Proficiency gains from tasks will be converted into Glory Points.

"Doctor, is it confirmed?" this time it was the patient’s husband who asked.

Liu Banxia nodded with a smile. "Yes, it’s confirmed. It’s Type I Gaucher disease, which is treatable. Moreover, after treatment, the prognosis is excellent; she can live a life just like a normal person."

"Oh my goodness, I can finally breathe! What exactly is this disease?" the patient asked, her hand on her chest.

"This illness, the one we tested you for involving the enzyme glucocerebrosidase, is also called Gaucher disease," Liu Banxia said with a smile. "Our bodies contain all sorts of enzymes that help us function. For example, some people blush when they drink alcohol because their bodies lack a specific enzyme that breaks down alcohol. A deficiency in the enzyme glucocerebrosidase causes a substance called glucocerebroside to accumulate in the liver, spleen, bones, and central nervous system, triggering the corresponding symptoms. We just need to supplement your body with this enzyme, and then there’s nothing to worry about. It’s basically a case of ’what’s lacking needs replenishing.’ Once you’re no longer deficient, the problem will be resolved." 𝘧𝓇𝑒𝑒𝑤ℯ𝑏𝓃𝘰𝑣ℯ𝘭.𝘤ℴ𝘮

"However, there’s one more thing to note. This disease is an autosomal recessive genetic condition. So, for the sake of any future children you might have, your husband will also need to be tested for it."

The patient frowned. "Dr. Liu, are you saying this is a genetic disease? But no one in our family has ever had this. Why does my husband need to be tested?"

"Genetic diseases all follow specific inheritance patterns," Liu Banxia said after a moment’s thought. "Gaucher disease is an autosomal recessive genetic disorder. This means the disease is caused by inheriting recessive genes. A child only has a chance of developing the illness if both parents are carriers of the gene. Since you’ve been diagnosed, if your husband is also a carrier, your children would have a very high chance of inheriting the disease."

"Getting him tested now will provide some peace of mind. Otherwise, if you were to become pregnant in the future, the fetus would need to be tested. If the disease manifests in early childhood, it’s usually the acute type, which is very dangerous, and a child would struggle to endure it. Don’t worry, this test is just to give you peace of mind. Once it’s done, you two can happily plan for a baby without any other concerns. When your child gets married in the future, have their partner tested too. That way, you can avoid potential risks. This is why premarital check-ups are so important; some conditions can genuinely be identified and avoided beforehand."

"However, for many people, this is ultimately a personal choice. We doctors can only offer advice. In any case, your condition isn’t critical. With the right treatment, you’ll be fine. I also have to commend you on this matter. Fortunately, you firmly believed something was wrong. If you had waited until the disease progressed further and your spleen became significantly enlarged, you would have needed a splenectomy."

Hearing him say this, the patient smiled. "You see? I kept telling them I suspected I was ill, but they didn’t believe me. Now let’s see what they say! Let’s get my husband tested too." She then said to her husband, "Don’t be scared, it won’t hurt. Not at all. Taking the sample is just like a mosquito bite. And afterwards, don’t forget to buy Dr. Liu and the others some pork trotters!"

"Haha, I’ll definitely eat those pork trotters, even if someone accuses me of accepting a bribe!" Liu Banxia said with a laugh. "I’ll write up the order for your husband’s test in a moment. We’ll also prescribe medication for you for enzyme replacement therapy. For the next couple of days, just relax and let us take care of you. Once your indicators are stable, you can be discharged. But I also need to tell you, since this is enzyme replacement therapy, it requires long-term treatment. It doesn’t mean that once you’re discharged, everything is fine and the treatment can stop. The therapy must continue. In the future, we’ll try to get you a VIP status or something similar at our hospital."

"Hahahaha, I think that sounds great!" the patient laughed happily.

Although she didn’t fully understand everything, the outcome was certain: her condition wasn’t life-threatening. She would just follow the doctor’s instructions and get the tests done. For the patient, this was the most perfect outcome. There was no need to get to the bottom of every detail; it was impossible to understand everything anyway, right?

After they left the patient’s room, Wei Yuan chuckled. "I was wondering how you were going to explain it to the patient. I didn’t expect you to have such a well-thought-out approach."

"Teacher Wei, why is that? Didn’t Teacher Liu explain everything clearly?" Xu Yino asked curiously.

"Have you forgotten the typical cause of autosomal recessive inheritance? Most cases arise from consanguineous marriages. The probability of two unrelated individuals both being carriers and meeting is very small," Wei Yuan said.

"There’s no need to bring that up with them; it wouldn’t help the current situation at all. Otherwise, they’d go back and start investigating their families for generations," Liu Banxia said with a smile. "Anyway, the cause of the disease has been explained very clearly. How they understand it is their business. Our job is just to help her get better. And what if it really is just a coincidence? That’s also possible. In earlier years, intermarriage among relatives was quite common. It’s conceivable that someone became a carrier back then, the gene was passed down for several generations, and then these two families happened to connect."

Xu Yino nodded. She understood now. This was another lesson learned. At least this approach would cause less worry for both families. As for whether they would figure out the full implications themselves, that was another matter.

"Actually, autosomal recessive genetic diseases aren’t very common nowadays. In the past, albinism and phenylketonuria were perhaps the more frequently seen ones, right?" Wei Yuan remarked.

"Exactly. Encountering Gaucher disease is as rare as winning the lottery. This illness seems to be more common among Ashkenazi Jewish families, as intermarriage within the community was historically prevalent," Liu Banxia said.

"I don’t understand why they would have such customs," Xu Yino said, wrinkling her nose.

"It’s a traditional issue. They place a higher value on bloodline purity," Liu Banxia said with a smile. "The disadvantage of consanguineous marriage is an increased incidence of hereditary diseases. However, at the other extreme, it can also potentially lead to the birth of highly intelligent individuals. Of course, the flip side is that it can also lead to the birth of individuals with lower intelligence. It’s a severe polarization. People tend to remember only the geniuses, while those with lower intelligence are often mercilessly weeded out by life. That’s why society generally doesn’t encourage consanguineous marriage; the consequences can be too harsh. It’s only within certain specific groups that this practice persists."

Xu Yino nodded. From everything she had been taught, consanguineous marriage was definitely not advisable. At the very least, avoiding it could greatly reduce the probability of such autosomal recessive genetic diseases, and there are many related conditions.