I Can See Health

Chapter 922: Rare disease constitution?

"Didn't he have angiography four years ago? There were no problems. Is there anything he shouldn't do?"

Jin Miao stood aside and asked.

Gu Xinyue shook his head slightly: "I think it is similar to 'heparin-induced thrombocytopenia'. After all, no matter how low the probability of the event is, there are two situations for the patient, not happening (0%) and happening (100%) ).”

Doctors can make mistakes, but for patients, they cannot afford the serious consequences of any mistakes.

Lu Chen smiled and nodded: "It would be beneficial to think more about it. For example, is it okay to use heparin and contrast media again during the operation? Will this unknown disease interact with the patient? Continue to take long-term coronary heart disease-related drugs aspirin and statins. Will it aggravate liver function abnormalities?"

Lu Chen quite appreciated Gu Xinyue's ideas.

In clinical practice, considering one more situation can always prevent some unknown events in advance.

Gu Xinyue continued: "So I have been thinking about whether the patient can undergo angiography these days? What are the complications of angiography? These issues need to be communicated with the patient's family."

Hearing this, Jin Miao felt that it made sense.

"How is the patient's liver function?" Lu Chen asked.

Gu Xinyue quickly handed over a supplementary examination sheet.

Lu Chen picked it up and took a look.

The auxiliary examination results reported that liver function: total bilirubin 224.8 μmol/L, direct bilirubin 13.25 μmol/L, and indirect bilirubin 211.55 μmol/L.

In addition, alanine aminotransferase, aspartate aminotransferase, total protein, albumin, globulin, etc. were all normal.

Myoglobin, coagulation series, infectious disease series and other routine and biochemical tests were all normal; abdominal color ultrasound was normal.

"Let's ask for a consultation with a gastroenterologist first," Lu Chen said.

Industry specializing in surgery.

Lu Chen didn't know every disease.

In certain specialized fields, specialists are definitely the best.

Gu Xinyue said helplessly: "The patient said that he had seen the gastroenterology department twice before. He doesn't want to see him again and hopes that coronary intervention can be arranged as soon as possible."

Lu Chen was stunned, "This..."

This patient is really anxious.

In fact, according to the patient's condition, coronary intervention is not so urgent.

Thinking of this, Lu Chen recalled that he had seen jaundice caused by genetic factors in some information many years ago.

I remember the general content seems to be relatively close, but the name of the diagnosis is in English.

I can't remember it now.

"Forget it, I'd better communicate with the patient first." Lu Chen said, "Let him wait for the cardiac interventional surgery and figure out the digestive diseases first."

"good."

Gu Xinyue smiled, as long as Lu Chen stepped in.

As long as Director Lu communicates with the patient, this matter will be easy to handle.

Subsequently.

Lu Chen followed Gu Xinyue to the ward.

After some communication with the patient, the patient finally agreed to postpone the interventional surgery.

"Director Lu, I have been suffering from this disease for many years. Are you sure you can find out the cause?" the patient asked doubtfully.

Lu Chen smiled and said, "I don't know now. I can go back and check the information. In short, it seems that your disease should not have any impact on body functions, but we still have to be cautious."

"Director Lu, you are really sincere. You said you would go back and check the information..." The patient also laughed.

Ordinary doctors will always try their best to show that they are knowledgeable.

But Director Lu in front of me is so sincere. Do you really want to go back and check the information? !

"My major is cardiology. When it comes to cardiology diseases, I can tell you a thing or two." Lu Chen said, "But when it comes to diseases outside of cardiology, I don't have much confidence. I have to be more cautious. good."

"Well, I'll wait for the good news from Director Lu."

After returning to the office.

Lu Chen immediately began to search for relevant information.

I searched for most of the day.

He finally found the diagnosis of the disease and looked at other possible diseases.

"Gilbert Syndrome?!"

When Lu Chen thought of the diagnosis name, a prompt popped up on the system panel.

"Congratulations, the system upgrade completion rate has increased!"

Lu Chen was stunned, this is really the diagnosis!

Gilbert syndrome is a congenital non-hemolytic disease mainly caused by elevated levels of indirect bilirubin in the blood due to bilirubin conjugation disorder.

The inheritance pattern is usually autosomal recessive but may also be dominant.

It can occur at any age, is characterized by intermittent jaundice, and has no impact on life expectancy.

It has been reported abroad that the incidence rate of Gilbert syndrome is 3-13%, with more males than females.

Lu Chen found that there was no large-scale epidemiological survey data in China.

It can be seen that it is not a rare disease.

Of course that's for a gastroenterologist, not a cardiovascular physician.

The next day.

Lu Chen told Gu Xinyue his thoughts.

"Director Lu, how should the Gilbert syndrome you mentioned be diagnosed?" Gu Xinyue said.

"Check genes!" Lu Chen said slowly.

This is a genetic disease, and Gilbert syndrome can only be diagnosed through genetic testing.

After Gu Xinyue communicated with the patient, he agreed to check the gene.

The patient then underwent genetic testing, and after a long wait, the results were finally available.

Patient genetic testing report: Gene UGT1A1, mutation information c.1456T\u003eG (yr486Asp), gene UGT1A1, mutation information c.211G\u003eA (y71Arg)!

At this point, based on the patient's clinical manifestations and auxiliary examinations, Gilbert syndrome is considered.

This diagnosis was also recognized by colleagues in the gastroenterology department.

"Now there is a problem!" Lu Chen said to Gu Xinyue, "Gilbert syndrome usually has no symptoms. However, severe physical exertion, fasting, lack of sleep, alcohol, dehydration, surgery and concurrent diseases may aggravate the patient's jaundice! "

"Are you saying that surgery may aggravate the patient's condition?" Gu Xinyue said.

"Yes! It is definitely possible. Although the probability is low, it cannot be completely ruled out." Lu Chen nodded, "So we must communicate well with the patient, and the liver function must be reviewed during the operation."

In the ward.

After the patient learned of the diagnosis, he became a little anxious and asked, "Is this English disease serious?"

Lu Chen smiled and comforted: "It is usually a benign disease and does not require special treatment. However, surgery may aggravate jaundice, so we need to communicate with you in advance."

Hearing this, the patient breathed a sigh of relief and said with a smile: "I know this. As long as the disease is okay, it will be fine. I have many relatives in my family who have this disease. As for interventional surgery, I definitely know the risks."

"If you understand, that's good."

After being communicated and informed of the possible risks, the patient still chose to undergo coronary angiography.

Liver function reexamination after surgery: total bilirubin 285.84 μmol/L, direct bilirubin 14.7 μmol/L, indirect bilirubin 271.14 μmol/L, and other items were normal.

Bilirubin indicators, all rose.

Lu Chen checked the relevant literature again, and UU Kanshu www.uukanshu.net found no relevant literature on the effects of contrast agents or heparin on elevated bilirubin in patients with Gilbert syndrome.

All things considered, it is still related to surgical stress.

After three days of observation, the bilirubin level naturally dropped.

"It's another rare disease! The incidence can be reported!"

Gu Xinyue couldn't help but sigh.

When you follow Lu Chen, the probability of encountering a rare disease is really high!

Maybe Director Lu has a physique that attracts "rare diseases"?

Jin Miao smiled.

"This is Director Lu's keen eye. If someone else encounters this disease and misses it without diagnosing it, then they will not encounter rare diseases!"

:,!

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