I can see health

Chapter 926 Rare disease constitution?
"Didn't he have a radiography four years ago, and there were no problems, so why don't you dare to do it?"

Jin Miao asked while standing aside.

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

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

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

Lu Chen admired Gu Xinyue's ideas.

Clinically, considering one more situation can always prevent certain unknown events in advance.

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

Jin Miao also felt quite reasonable when he heard the words.

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

Gu Xinyue hastily handed over an auxiliary examination sheet.

Lu Chen picked it up and took a look.

Auxiliary examination results report, liver function: total bilirubin 224.8 μmol/L, direct bilirubin 13.25 μmol/L, indirect bilirubin 211.55 μmol/L.

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

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

"Let's ask for a gastroenterology consultation first." Lu Chen said.

Industry specializing in surgery.

Lu Chen didn't know every disease.

In some detailed specialized fields, specialists are definitely the best.

But Gu Xinyue said helplessly: "The patient said that he had seen a doctor before, and he had seen the gastroenterology department twice. He doesn't want to see it again, and hopes to arrange coronary intervention as soon as possible."

Lu Chen was taken aback, "This..."

This patient is really worried.

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 a certain material many years ago.

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

I can't remember anything now.

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

"it is good."

Gu Xinyue smiled, as long as Lu Chen is involved.

As long as Director Lu communicates with the patient, the 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 operation.

"Director Lu, I have been sick for many years, are you sure to find out the cause?" the patient asked doubtfully.

Lu Chen smiled, "I don't know now, I can go back and look up the information. In short, it seems that your illness should not have any effect on bodily functions, but we still have to be careful."

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

Ordinary doctors will always do their best to show their profound knowledge.

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

"My major is cardiology. Speaking of cardiology diseases, I can tell you a thing or two." Lu Chen said, "But when it comes to diseases other than cardiology, I don't have much confidence, so 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.

Searched for most of the day.

He finally found the diagnostic name of the disease, and by the way, looked at other possible diseases.

"Gilbert syndrome?!"

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

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

Lu Chen froze for a moment, this is really the diagnosis!

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

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

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

It has been reported abroad that the incidence of Gilbert syndrome is 3-13%, more men than women.

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

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

Of course, that is for gastroenterologists, but not for cardiologists.

The next day.

Lu Chen told Gu Xinyue his thoughts.

"Director Lu, how to diagnose the Gilbert syndrome you mentioned?" Gu Xinyue said.

"Check Gene!" Lu Chen said slowly.

Gilbert syndrome is a genetic disorder that can only be diagnosed through genetic testing.

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

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

Patient's gene detection report: gene UGT1A1, mutation information c.1456T>G (p.Tyr486Asp), gene UGT1A1, mutation information c.211G>A (p.Gly71Arg)!
So far, considering the patient's clinical manifestations and auxiliary examinations, consider Gilbert's syndrome.

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

"Now there is a problem!" Lu Chen said to Gu Xinyue, "Gilbert's syndrome is usually asymptomatic. 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! There must be such a possibility. 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 rechecked during the operation."

in the ward.

After the patient learned of the diagnosis, he was a little anxious, "Is this G or something serious in English?"

Lu Chen comforted him with a smile: "It's usually a benign disease and doesn't 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 fine, it will be fine, but many relatives in my family have this disease. As for interventional surgery, I must be aware of the risks."

"If you can understand, that's good."

After communicating and informing about the possible risks, the patient still chose to have coronary angiography.

Postoperative liver function check: 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, but found no relevant literature on the effect of contrast agents or heparin on bilirubin elevation in patients with Gilbert syndrome.

Considering it comprehensively, it is still related to surgical stress.

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

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

Gu Xinyue couldn't help sighing.

By Lu Chen's side, 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 sharp eyes. If someone encounters this disease and misses it without diagnosing it, then he will not encounter a rare disease!"

(End of this chapter)