Doctor: In The Beginning, He Dug Out His Heart With His Bare Hands, Frightening Fang Xiaoran
056: A Tough Diagnosis
When Han Bing heard Shen Hao talk about this disease,
Hurry up and do the same as Shen Hao just now,
He looked into the boy's eyes.
And looked at his palm,
I saw red bumps on his palms.
Then I lifted up his clothes and saw that there were red bumps on his lower abdomen.
You can see that his corneas are cloudy and there are red bumps in these places. These symptoms are indeed typical symptoms of Fabry disease!
Ouyang Yulu saw Han Bing's series of operations.
Ask quickly
"Dr. Han? Do you also know something about Fabry disease?"
"Back then, I studied some rare disease topics with my tutor, one of which was Fabry disease. I just vaguely remembered some typical symptoms of this disease! But this disease is so rare that I have never encountered it before, even when I was in Beijing Hospital. I haven’t encountered this in several years!”
At this time, Director Yu of the Emergency Department came over.
Asked Ouyang Yulu
"I was going to have a meeting in the outer courtyard. I heard that the kid was here again and I almost jumped off the building? Why did there be such a big commotion this time?"
Ouyang Yulu nodded helplessly.
"Director Yu, you can say so. Look, he has just calmed down for a while!"
Ouyang Yulu told what happened just now.
Shen Hao also told Director Yu that Shen Hao judged that the boy might have Fabry disease.
"What is Fabry disease? What is the basis for judgment? If it is only based on the cloudiness of his cornea and the pimples on the skin in these areas, it is not enough to judge that this is Fabry disease."
"His kidneys must be punctured, genetic testing must be performed, and cardiac examinations, which are areas Dr. Shen is familiar with, must be performed.
Only by combining the results of these examinations can we finally draw a conclusion whether it is Fabry disease.
That's quite complicated anyway.
Director Yu explained in detail the conditions for diagnosing Fabry disease.
Ouyang Yulu looked shocked when she heard this.
"Does Director Yu have a lot of research on this disease? How come he is so familiar with the diagnosis conditions of this disease!"
Director Yu waved his hand and smiled helplessly.
"Don't mention it. I'm not as well-educated as you young people today. If we, the older generation, want to continue to evaluate professional titles, we have to take various exams. You think it's a coincidence that I just memorized this knowledge about rare diseases these days, and I happen to be familiar with the law. I have looked more at Bray disease, a rare disease that I have never encountered in my entire career. How can I possibly know anything about him."
Ouyang Yulu nodded.
"So that's it!"
But some things can still be done,
Shen Hao asked the nurse to bring over the echocardiogram.
Checked the boy's heart
Sure enough, it was found that his left ventricle was hypertrophic.
Seeing this result, Director Yu quickly said
"Most of these Fabry disease patients really show left ventricular hypertrophy. Based on these appearances, does it seem that he really has Fabry disease, the first case in our province?"
"Perhaps this is not the first case. This disease is hereditary. Many times in the later stages of this disease, it is mistaken for kidney disease and kidney failure. Because of the special nature of this disease, many people do not know it even until the moment of death. What disease do you have!"
Shen Hao added
Director Yu nodded.
"Indeed, genetic analysis is also an important means of diagnosing this disease!"
"Then let's quickly contact the nephrology department to do a kidney biopsy on him."
Director Yu called the nephrology department and asked them to come over for consultation.
At this time, Shen Hao remembered that Ouyang Yulu had just said that he was from a single-parent family.
Living together with my father.
So I asked Ouyang Yulu again
"You just said that he lives in a single-parent family and has always been with his father. What about his mother?"
Ouyang Yulu shook her head
"I'm not sure about this. I heard him say before that her mother seemed to have passed away when he was very young. It seemed that she died of illness."
"Have you ever told me what the disease is? Then does he have any other family members?"
Shen Hao quickly asked.
"That's not true. By the way, it seems that he had an older brother who passed away for unknown reasons a few years ago!"
Ouyang Yulu replied.
"Now we seem to have some clues. Everyone should know that this disease is inherited through the X gene."
That is to say, it follows that "male patients must be sick if they give birth to a girl, and all boys are normal.
The genetic rule that female patients, regardless of whether they are male or female, has a 50% chance of getting the disease.
The child's father is doing fine;
That problem probably arises with Li Nan’s mother.
His mother and brother also died one after another.
"Then quickly contact his father and ask him to go to the hospital quickly. There are some things that need to be confirmed with him. Besides, it is unreasonable to say that the child is so sick and his only relative is not here in the hospital!"
"Okay, I'll contact Li Nan's father now!"
Not long after, the doctor from the nephrology department performed a kidney puncture on Li Nan, obtained the slices, and immediately sent them to the pathology laboratory for biopsy.
But it will take some time to get the results.
At this time, a middle-aged man with a vicissitudes of life ran over.
This man is Li Nan's father.
Ouyang Yulu introduced Li Nan's current situation to him in detail.
And learned from him the cause of death of Li Nan’s mother and brother
The final answer was
“It’s all related to kidney disease.”
After hearing this answer, everyone seemed to have come to a conclusion.
Now we are waiting for the various test results to come out.
However, this result may be a very heavy blow to both Li Nan and his father.
Suddenly, a heartbeat monitoring alarm sounded.
Li Nan's various physical indicators are constantly getting worse.
Ouyang Yulu quickly began to carry out rescue operations.
It took a lot of effort to rescue Li Nan.
"I think we can't wait any longer and we must inject him with special therapeutic drugs immediately, otherwise Li Nan may not be able to survive!"
Shen Hao said
"Special effect medicine? We don't have any in Dongli or even the whole city because there are no confirmed cases in the province! And this medicine is very expensive."
But if confirmed,
In Li Nan's case, he had to get an injection, otherwise his life would be in danger.
But the medicine could not be found for a while.
However, Shen Hao met someone at this time.
She should be able to get this medicine.
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