This doctor has a system

Chapter 157 155. Fabry Disease
"Why are you frowning?" Li Xinyao picked up a prawn for Gao Feng. The two of them didn't go home for dinner after work tonight. Li Xinyao wanted to eat this Wang Po prawn.

"I have a complicated patient, and I don't have a clue now." Gao Feng sighed, "I'm considering whether to have an MDT (Multidisciplinary Consultation)."

"Fuck it." Li Xinyao said casually, "Hurry up and eat, and check the information when you get back. What's the use of you sitting here thinking about it?"

While the two were talking, someone suddenly quarreled in the hall.

"Why did you leave me? Did I treat you badly?" A middle-aged man yelled angrily at the woman sitting across from him. He picked up a cup and threw it on the ground, "You must give me a cup today. explain!"

"There's no explanation, it's just that I'm tired and don't love anymore." The woman said calmly, "Let's get together and relax."

"It's good to get together and have a fart." The man was furious, "I just sent you flowers yesterday, but today you want to break up. You must give me an explanation!"

"Look at this flower." The woman pointed to a pot of small yellow flowers beside the aisle, "When we came here for dinner in winter, it withered, but now it blooms again."

"What do you mean?" The man was a little impatient, "Don't tell me if this is useful or not."

"Flowers wither and bloom again!" "But you thank you so early, I will definitely leave!" the woman couldn't bear it anymore.

Li Xinyao almost sprayed the food on Gao Fengtou, and someone in the store couldn't help laughing.

The man almost fell over, "You are talking nonsense, the doctor has already said it, more than one minute is not counted." He hastily defended.

"Then go and talk to the doctor, and don't come to me again." The woman left heartlessly, leaving behind an extremely sad man.

"He's quite miserable." On the way back, Li Xinyao sympathized. "If I say that the relationship between two people still depends on their relationship, it's a bit inappropriate to break up just because of this or that."

Hey, this is a full man who doesn't know a hungry man is hungry. Gao Feng gave her a weird look, as if someone wanted to ask him to learn more yesterday.

"You are going to speak English tonight," Gao Feng said.

"What?" Li Xinyao was a little puzzled, "Why should I speak English when I'm so good?"

"Because I want to learn English." Gao Feng rushed over, "Cooperate with me."

After learning English, Gao Feng felt refreshed, so he started to check the information.

Hypertrophic cardiomyopathy is an inherited cardiomyopathy with autosomal dominant inheritance.The patient's ventricles were anatomically characterized by asymmetric hypertrophy of the ventricles.

About 60% of adult patients with hypertrophic cardiomyopathy can detect a clear pathogenic gene mutation, and some have unexplained cardiac hypertrophy.It is one of the leading causes of sudden death in adolescents.

The most common symptoms of patients are exertional dyspnea and fatigue, and some patients may experience symptoms such as chest pain, palpitations, and syncope.

Uncle Lu has several family members who also suffer from hypertrophic cardiomyopathy. Cases show that his elder sister, younger sister, and his niece also suffer from hypertrophic cardiomyopathy.

Why are they all women?He remembered that Uncle Lu had two sons and three grandchildren.

Thinking of this, Gao Feng suddenly stopped: 59 years of history of hypertrophic cardiomyopathy, 15 years of follow-up history of cardiology department of the provincial doctor, understanding of patients and other factors made Gao Feng fall into inertial thinking, Instead, the most basic problem is ignored...

Gao Feng came to the department early the next morning. Uncle Lu had just finished his meal, "Doctor Gao, is the ward round so early today? Don't you have to turn in at 8 o'clock?"

"Yes, I just came to ask about the situation first." Gao Feng replied, "Do your son and grandson have this hypertrophic disease?"

"That's not true." Uncle Lu smiled, "I seem to be quite strange, passing on females but not males."

"Hypertrophic cardiomyopathy is an autosomal dominant inheritance. Uncle Lu is a male patient, and it is passed on from female to male." Gao Feng muttered to himself, "What does this mean?"

"X-linked inheritance?" Dong Qianqian asked.

"Yes!" Gao Feng suddenly realized.

"Then there are two possibilities 1. Amyloidosis 2. Lysosomal storage disease (LSD)."

The slow and mild course of amyloidosis can explain some of Uncle Lu's symptoms, but the gastrointestinal symptoms of patients with this disease are often very severe, and Uncle Lu has no troubles in this regard; and the more dangerous immunoglobulin light chain amyloid Transgender, the survival period of patients is very short, and I am afraid that they will not last until today.

The next step is lysosomal storage disease (LSD). If the possible X-linked inheritance is considered, there are three types of LSD that meet the criteria: Danon disease, Fabry disease and mucopolysaccharidosis type II.

"Although cardiac manifestations similar to hypertrophic cardiomyopathy are common in patients with Danon's disease, male patients with this disease can develop as early as 12 years old, and almost all have mental retardation and muscle weakness; patients with mucopolysaccharidosis type II On the other hand, there are typical skin lesions, central nervous system involvement, and facial abnormalities." Director Lu told Gao Feng on the phone, "Old Lu doesn't consider this."

So, what about Fabry disease?Gao Feng felt that he was getting closer to the truth.

Like other LSDs, Fabry's disease is caused by a sharp reduction or loss of enzyme activity in lysosomes that clears specific compounds, causing accumulation of toxic compounds that damage specific cells and organs.

In patients with Fabry disease, loss of lysosomal α-galactosidase A activity leads to the accumulation of sphingosyltrihexose (Gb3) in lysosomes of various cells, and Gb3 accumulation is further converted to Toxic, hydrophilic deacylated derivatives, resulting in multiple deleterious effects including cytotoxicity, pro-inflammatory and pro-fibrotic effects.

Symptoms of Fabry disease usually appear sequentially with age due to tissue-specific differences in the process by which Gb3 accumulates, transforms into toxic products, and exerts cytotoxicity.

"I'm going to talk to Uncle Lu. I need a genetic test." Gao Feng hurried to the ward.

"I don't understand, but you can make one if you think it's necessary." Uncle Lu was eating an apple, and replied casually.

"Yes, make one for us." The son on the side was very active, "This is some kind of genetic test, it's very high-end when you hear it, and it's very necessary to do it."

After signing the informed consent soon, Gao Feng contacted the genetic disease testing laboratory for Uncle Lu.

Fifteen days later, he received two test reports from the laboratory.The genetic test report showed that the R15G mutation was detected on exon 6 of Uncle Lu’s GLA gene (the gene encodes lysosomal α-galactosidase A), which is known to cause Fabry’s disease; another The enzyme activity test report showed that no residual activity of α-galactosidase A was detected in Uncle Lu's plasma samples, which confirmed that Uncle Lu was a patient with classic Fabry disease.

"Seeking the root cause: With your tireless efforts, you finally found the root cause of Lu Zhuochang's disease. Although it was too late, his family members and descendants can avoid the influence of Fabry disease through genetic counseling. Your hard work It is not in vain to prove it. You have obtained 30 skill points."

The task was completed, but Gao Feng was not happy.

Studies in recent years have shown that among patients with hypertrophic cardiomyopathy in my country, the incidence of Fabry disease is about 0.93%, which is not a small number.However, Fabry disease is still often misdiagnosed and missed due to the variety of symptoms and lack of specificity.

Compared with hypertrophic cardiomyopathy, which has limited treatment options, although Fabry disease involves multiple systems throughout the body, treatment options have long been available.

According to the 2013 "Expert Consensus on the Diagnosis and Treatment of Fabry Disease in China", enzyme replacement therapy—that is, the use of gene recombination technology to synthesize α-Gal A in vitro to replace the defective enzyme in the body—can largely alleviate or even prevent heart disease. and kidney disease.

However, for Uncle Lu, the truth came too late.

The "Chinese Expert Consensus on the Diagnosis and Treatment of Fabry's Disease" mentioned that generally speaking, patients with Fabry's disease often develop clinical symptoms from childhood to adolescence, and gradually aggravate as the disease progresses. Many patients, especially males Patients often die of severe renal failure or cardiovascular and cerebrovascular complications in young and middle-aged patients.

Uncle Lu, a Fabry disease patient who lived to the age of 78, is really rare.This is one of the reasons why he was misdiagnosed.

"It's true." Uncle Lu was quite complicated when he heard the result, but soon he calmed down, "I'm 79 this year, so why not?"

For the 79-year-old Uncle Lu, heart disease has entered an irreversible stage. Although it will not be life-threatening in the short term, active treatment cannot reverse the disease.

What is even more worrying is that the amiodarone that Uncle Lu took for the treatment of atrial fibrillation may accelerate the progression of Fabry's disease by competitively inhibiting phospholipase A2 in lysosomes. Aggravation, can not be completely ruled out related to amiodarone.

This "life-saving" drug actually aggravated his symptoms.

Fortunately, when Fabry's disease was suspected, Gao Feng immediately suspended the doctor's order of amiodarone for Uncle Lu.After communicating with Uncle Lu and his family, he adjusted a new treatment plan for Uncle Lu, and soon, Uncle Lu's condition was stable and he was discharged from the hospital.

Until Uncle Lu was discharged from the hospital for a long time, Gao Feng would still think that during the 59-year course of the disease, and during the nearly 15 years of follow-up of Uncle Lu, if someone could have noticed the clues earlier, would the result be true? Will it be very different?

Gao Feng didn't know, and probably no one could answer this question.

"It's very rare to be able to write a case report." Dong Qianqian said.

"You write it." Gao Feng was too lazy to do it, and he had accumulated a lot of things in the past half month.

First, a group of homeless people were targeted at the laboratory construction site. They were said to be homeless, but they were actually street thugs from nearby villages.

As soon as they came up, they had to charge project safety management fees. Someone from the laboratory construction manufacturer Younai came forward to communicate with them, and they were beaten up.

In desperation, You Nai called the police, and when the police arrived, they took the street thugs away. They thought it was all right, but a group of people rushed in and destroyed the construction site that night.

(End of this chapter)