Xiao Muzhi looked at the patient carefully and pondered for a moment: "In this way, if you go to the hospital with me, I need some systematic pathological examinations and some data to detect."

"good!"

Ma Liming had a car and drove Xiao Muzhi to a nearby district-level hospital.

I guess I come here often.

The director in charge saw Ma Liming helpless: "Little Ma, are you here again?"

"Yes, Director Zhang has caused you trouble."

Marley nodded.

"I won't say it if you are troublesome. I've said it a long time ago. His disease cannot be cured in China, unless you go to a hospital in Europe and the United States."

Director Zhang was a little helpless: "We have never seen this disease now."

“Can you help with a few checks?”

Xiao Muzhi stepped forward and nodded: "I want to confirm my guess."

"Who are you?"

Director Zhang showed a hint of disgust: "I don't have time to play with you."

"This is Dr. Xiao Muzhi, a famous person."

Ma Liming pointed at Xiao Muzhi with pride: "Have you never heard of it?"

"Doctor Xiao Muzhi?"

When he heard this name, Director Zhang suddenly stood up in a daze: "A famous knife in Zicheng Hospital?"

"You are kind to you, I just want some tests to determine if it is a guess in the end."

Xiao Muzhi nodded politely: "Is that OK?"

"Of course, what needs to be detected?"

Director Zhang instantly changed his face.

Dr. Xiao personally checked, what can I say?

"I want to test bone marrow cell smear, glucose cerebrosidase activity assay, and gene analysis!"

"What, you suspect it is..."

Director Zhang suddenly woke up and said, "Oh, why didn't I expect it? It must be an invisible hereditary glucocerebroside disease!"

"Yes, it's Gaucher's disease!"

Xiao Muzhi nodded in agreement.

Gaucher disease is also called glucocerebroside disease. It is an extremely rare autosomal recessive disease, which is very terrifying.

This is the most common type of storage disease in lysosomal diseases. It is caused by the deficiency of lysosomal enzyme glucose cerebrosidase, which causes its substrate glucose cerebrosidase to accumulate in the bone marrow, spleen, liver and macrophages in various systems, which leads to anemia, thrombocytopenia, spleen enlargement, bone pain, and neurological lesions.

Where is the horror? When primary type 1, it will have a long-term fever, causing the brain to burn out, and then the system's motor nerve damage, rapid progress of medulla oblongata, eye movement disorders, epilepsy seizures, horn arch retina and cognitive impairment. It can be said that being able to live beyond four years old is a miracle.

Patients who survived by chance in the end will gradually blur the retina, auditory hallucination, and IQ disorders.

The body stops developing and just waits for death.

It is quite a miracle to be able to live to the age of sixteen or seventeen.

It can almost be said that this girl is passing through the gate of hell every day, and countless days and nights pass by in the gate of hell.

"Doctor Xiao, what did you judge based on?"

Director Zhang felt a little curious, which caused malnutrition and developmental delay.

"Look at his skin!"

Xiao Muzhi pulled up the girl's arm. The girl's arms were very thin, her skin was loose, and there seemed to be a skin disease on it: "The patient's skin was dry and rough, accompanied by diamond or polygonal scales, and it looked like fish scales. Brown and yellow spots were visible on the exposed skin, which was one of the typical symptoms."

Xiao Muzhi squatted down gently and pressed the patient's lower abdomen: "Look, the other is the spleen, because this disease will cause hyperactivity of the spleen and easily cause rupture or death!"

"But many diseases are also symptom of this kind. I know more than a dozen of them. Is this judgment not rigorous, right?"

Director Zhang frowned slightly.

"There is another test sheet, I don't know if you noticed it."

Xiao Muzhi found another test sheet and raised it: "The activity of chitotrisase is significantly higher than that of normal people, and is the most significant increase among the biomarkers of Gaucher disease. Have you ever thought about this question? In addition, you should also know that chitotrisase activity is also the most change marker of patients after receiving drug treatment."

Director Zhang's face turned red!

In fact, he didn't know, but felt it was impossible and ignored this option directly.

After all, people have a fixed mindset.

That is to habitually look for the causes of common and frequent diseases, and subconsciously refuse to admit that this is a rare disease!

However, after the test results came out, Xiao Muzhi's judgment was basically confirmed.

Director Zhang was truly convinced, Xiao Muzhi was indeed amazing!

"Your judgment is right, I have nothing to say."

Director Zhang nodded: "So, do you have a good treatment plan now?"

"Glucocerebrosidase activity detection is the only criterion for the diagnosis of Gaucher disease. You see, when the glucherase activity of blood white blood cells or skin fibroblasts here is reduced to less than 27% of the normal value, Gaucher disease can be confirmed."

Xiao Muzhi also felt it was a bit difficult. The girl's disease was too late.

Drug maintenance is difficult.

"Surgery must be performed, hematopoietic stem cell transplantation!"

Xiao Muzhi frowned slightly: "In addition, he removed his spleen at the same time to reduce the risk, and then took medicine at the same time, which may be useful!"

After the surgical plan was established, Director Zhang actually had a clear idea.

"This is absolutely fine. Our hospital can do this kind of surgery or perform some postoperative treatment!"

Director Zhang glanced at Ma Liming: "In this way, you prepare and donate hematopoietic stem cells to your sister."

"I?"

Maliming suddenly became embarrassed: "I'm afraid I can't."

"no?"

Hearing this sentence, Director Zhang was instantly angry: "What do you mean? What are you not good at? The relative matching rate is the highest."

"But she is not my real sister, she is me..."

Ma Liming hesitated for a long time and whispered: "This was adopted from the welfare home when he was eight years old, so..."

Xiao Muzhi frowned slightly: "Then I can only ask for help, I hope someone will donate hematopoietic stem cells."

"Let's do this, but the waiting time is too long. How can we quickly alleviate his current situation?"

Director Zhang is experienced, but in fact, after someone gave me some advice, he quickly came up with a plan.

He is doing treatment and surgery.

But it is a matter of time to match hematopoietic stem cells. What should I do at this time?

"I think it's possible to do a spleen removal first, and use a new drug, Megroot, and Yiligout, to treat it. What do you think?"

Director Zhang had completely put away his arrogance and asked carefully.

"You are right. In addition, she has severe anemia, and can supplement vitamins and iron, and inject red blood cells and platelets into it when necessary to correct anemia or thrombocytopenia. In addition, secondary infections should be prevented. Skeletal lesions can be supplemented with calcium agents to treat osteoporosis, such as calcium gluconate, calcium lactate, bisphosphonate, etc."
Chapter completed!