Just when Ruan Bin and Nurse Xiaoli were bragging, suddenly Guo Hui found Ruan Bin!

"Old Ruan, come to my side and help me check the gates!" Guo Hui said to Ruan Bin.

"What's wrong?" asked Ruan Bin.

"I'll tell you as we go!"

The two walked to Guo Hui's consultation room together, and Guo Hui said: "Just now I had a 20-day-old baby who had poor feeding, vomiting, lethargy, restlessness, and shortness of breath. The child's parents are post-90s, and a week ago, they found out that the child did not eat much milk powder, and later found that they often vomited milk powder. Today, the child didn't want to eat milk powder in the afternoon, at first I thought it was a bad appetite or something, I didn't care very much, and I didn't want to eat it in the evening, so I brought it to the hospital!"

Ruan Bin frowned after hearing this, "Let's take a look first." ”

Soon, the two came to Guo Hui's consultation room.

Inside is a post-90s couple, the man is holding the child, looking anxious.

"What about the pediatric hospitalist?" asked Ruan Bin to Guo Hui.

This kind of thing is best judged by pediatricians.

"The pediatric inpatient is busy now, he said that he will come over in ten minutes, why don't I take this time to let you come over first to help check the gates!" Guo Hui said with a hesitant smile. He has blind trust in Ruan Bin!

Never miss a doctor's visit!

"Okay, I'll take a look!" Ruan Bin glanced at the baby, and overall it didn't seem to be too abnormal!

He reached out and touched one of the child's small hands and found that the body temperature was low!

At this time, it was not long after the Chinese New Year, and the weather was still quite cold!

He touched the child's belly again and found that the body temperature was obviously abnormal.

"He's a little bit low. Ruan Bin said.

"Really? I didn't pay attention. Guo Hui was stunned.

"And there are occasional pauses or twitches in breathing!"

"I noticed this just now, so I asked you to come and have a look!" Guo Hui paused and continued: "I did a blood routine and found that the blood ammonia concentration reached 190 mmole/L!"

"So tall?" Ruan Bin was shocked.

He hurriedly threw a general diagnosis in the past.

"So what direction do you judge?" asked Ruan Bin without a trace.

"With such a high blood ammonia concentration, I first suspected that it was sepsis, asphyxia during childbirth, and other diseases! But I always felt that something was wrong!" Guo Hui thought for a while and added.

At this time, Ruan Bin had already finished reading the information on the general diagnosis!

He found out that it was not the so-called sepsis and other diseases!

"Old Ruan, what do you think is the disease?" Guo Hui looked at Ruan Bin with a look of hope.

"First do a urine organic acid and orotic acid analysis with plasma or dried blood film acyl-carnitine, and then do a liver function, coagulation function and plasma amino acids!" Ruan Bin said slowly.

Listening to Ruan Bin's string of inspection terms, Guo Hui was stunned!

This kind of inspection is complicated at first glance, and it seems that the situation is very serious?

"You are suspicious of the child......" Guo Hui was stunned for a moment.

"I think the child's situation looks like sepsis, but I can't rule out whether there is a urea cycle disorder, so I think it's better to do a screening!" Ruan Bin explained.

In fact, just now he used general medicine to judge that the child was suffering from a rare disease called urea cycle disorder!

This child will have a very hard future! It will also make the whole family very miserable!

Soon, the couple took the child to the check-up again.

Check it back.

The hospitalization of the pediatric department has also arrived.

He looked at the child's condition, and at the same time heard Ruan Bin ask to check those items, he was slightly puzzled: "Dr. Ruan, do you suspect that it is a urea cycle disorder?"

"I don't think this possibility can be ruled out!" Ruan Bin nodded.

After hearing this, the pediatric hospitalization always frowned, to be honest, now the child looks more similar to sepsis, will the other party do it like this?

However, it occurred to him that the general routine examination was not very helpful in the diagnosis of high blood ammonia. Liver function values (transaminases) in the plasma may be elevated, and hepatitis is easily diagnosed in the presence of hepatomegaly. The most important test to diagnose urea cycle disorders is the measurement of blood ammonia. Normal blood ammonia levels should be below 50 mmole/L, but may be slightly elevated with a high-protein diet, exercise, or hemolysis. In general, patients with urea cycle disorders usually have a serum ammonia level higher than 150 mmole/L at the time of acute onset. Ammonia levels may be normal when the patient is well, or in the early stages of metabolic decompensation.

Thinking of this, he is not very easy to refute!

The results of the examination have finally arrived!

Ruan Bin and the others looked at a series of examination results, except for Ruan Bin, Guo Hui and the pediatric hospitalization were always shocked!

According to the results of the current examination, it can almost be judged that the child is suffering from urea cycle disorder!

"Ruan Bin, it's really yours, if you hadn't insisted on doing these tests, we would have misdiagnosed!" Guo Hui gave Ruan Bin a thumbs up.

Fortunately, he still found Ruan Bin to come over and check it!

Urea cycle disorders can manifest at almost any age. However, at certain times, patients may experience symptoms due to metabolic stress. For example, in late infancy, children are more vulnerable, mainly due to slower growth rates, dietary changes, and recurrent infections caused by decreasing antibodies from their mothers. During puberty, decompensation may occur due to changes in growth rate and psychosocial factors.

However, it is important to emphasize that many patients may present outside of the time described above. The clinical manifestations of hyperammonia are quite distinctive, and with the exception of Argininase deficiency, other urea cycle disorders are quite similar. However, because the early symptoms are not specific, the diagnosis is often overlooked. Therefore, measuring blood ammonia is a test that should not be forgotten.

The pediatric inpatient next to him had a hot face, and he was indeed almost misdiagnosed at that time!

"Doctor, what is my son's illness?" the post-90s couple hurriedly asked.

"I'm sorry to tell you that your child is suffering from a urea cycle disorder! It's a congenital disease! It's not going to be good!" Guo Hui explained.

"What urea cycle disorder can be cured?" the man asked quickly.

"This ......"

After Guo Hui heard this, the three of them were all embarrassed.

The urea cycle manifests itself primarily in the liver as a series of pathways for the removal of ammonia from the blood. Part of the reaction is in the mitochondria, and part is in the cytoplasm, which can convert a toxic substance (blood ammonia) into a less toxic substance (urea), which is then excreted in the urine. Enzyme deficiencies in each metabolic pathway lead to an increase in blood ammonia. Of course, there are some other metabolic diseases that can secondarily inhibit the urea cycle. There is no cure for this disease at present!