Kabuki syndrome

The consequences of hypogammaglobulinemia are more serious, mainly due to decreased immune function.

The immune system of the human body is an important part of resisting pathogenic bacteria and cells, so the deficiency of immune function can easily cause various diseases and infections.

This condition is usually due to a congenital genetic abnormality or an acquired genetic variation.

Hypogammaglobulinemia is mainly because the concentration of some or all types of serum immunoglobulins is much lower than that of normal people, so this disease is also called this disease.

Congenital hypogammaglobulinemia is generally due to the lack of one or more types of globulin in igG, igA, IG, and M.

Only when the immune function is low will the symptoms of yin qi be easy, and genetic testing is required.

The ability of many hospitals can hardly find out the cause of the disease, and only the top hospitals can find out the cause of the disease, because the disease may be caused by polygenic lesions.

However, it is difficult to diagnose the specific genetic lesions with current medical methods.

This may be the reason why the little girl does not know what the disease is and cannot be treated.

Gene defect is an almost irreversible disease!

"If it's really a genetic defect, it's going to be troublesome."

Qin Feng frowned slightly, and his mood suddenly became heavy.

So far, the global treatment of genetic defects can be said to be almost negligible.

Even for chromosomal recessive diseases with slightly better genetic defects, there are only a few treatment techniques, and it depends on luck.

Spinal muscular atrophy, for example, is a clinically common recessive genetic disease of the nervous system.

Rare diseases are difficult problems in the global medical field, but they are also areas that all pharmaceutical companies are unwilling to touch.

Because there is no profit!

The R&D investment of a rare disease drug far exceeds the R&D cost of a common disease drug.

However, there are very few patients with rare diseases in the world, so every time a targeted therapy drug for a rare disease appears, it is basically a sky-high price that ordinary people cannot afford!

Just like Nosinagen sodium for the treatment of SMA, the price of one injection is $700,000!

And if you want to get treatment, you need 6 injections in the first year, which is $4.2 million!

Next year, second year, third year...

This is a huge price that even the middle class cannot bear!

And genetic defects are even more difficult, an insurmountable medical barrier.

Wow~

Qin Feng picked up the next intelligence evaluation report, which showed that the little girl's intelligence was only 59.8, which belonged to mild mental retardation, far below the average of children of the same age.

The reports that followed were almost uniformly ugly.

He put down the report and looked at the video in the light box. The whole body MRI showed that the fifth finger of his left hand was only about half of the normal length.

The third and fourth metacarpal bones are obviously shortened, the carpal bones are thicker, the joints are loose, and the spine also has a slight scoliosis.

What's more serious is that the little girl also has coarctation of the aorta!

Qin Feng looked at the report in his hand and fell into deep thought, constantly flipping through all the comparisons about gene defect diseases in his mind.

But one of the reports piqued his interest!

This was last year when the little girl's family came to Xiehe for an examination, and the Department of Neurology conducted a complete nerve and gene sequencing.

Although no conclusions have been given, it can be said to be quite detailed.

Blood routine white blood cells 35.04 × 109/L, rod cells 30%, C-reactive protein 20 mg/L. A chest x-ray showed an effusion in the left lower lung. High-resolution CT of the lungs revealed interstitial changes in both lungs.

Bilateral auditory brainstem response threshold of 100 dB. Metabolism screening in blood and urine showed no obvious abnormalities. Chromosome 46, XY.

14 lines of whole exome sequencing showed that the child had a KMT2D gene mutation, the mutation site was c.11944C>T, p.R3982...

And the name on this report is both familiar and unfamiliar.

He is the director of neurology, Song Yuan.

If we infer according to the results of this report, plus the amazing and strange face of the little girl herself.

Qin Feng felt that it might be a kind of disease.

Kabuki syndrome!

This is a very special genetic defect disease.

KS (OMIM l47920) is an autosomal dominant genetic disorder.

The main manifestations are postnatal growth retardation, skeletal development disorder, special appearance, congenital visceral malformation, abnormal skin texture and mild or moderate mental retardation.

The appearance is characterized by the lower eyelid eversion, which is similar to the outer corners of the eyes of Kabuki actors, hence the name.

The early abnormal signs of KS are not obvious, and there are few confirmed cases in infancy and neonatal period. In recent years, due to the development of genetic testing technology, the number of reported cases has gradually increased.

The currently identified KS mutant genes include KMT2D gene and KDM6A gene, both of which cause chromatin configuration remodeling through histone modification, thereby regulating gene expression.

But there is nothing in the world to do about this disease!

Because in general, there is no strong evidence that any particular gene is abnormal in Kabuki syndrome, and it is not certain that Kabuki syndrome is a monogenic disorder.

So even if all the symptoms have a certain point, but can not be diagnosed.

Even this expert in neurology did not make a detailed diagnosis.

He decided to call Director Song Yuan and ask about the situation.

Because such cases are rare, there should be some impression.

Judging from these, if the little girl really has Kabuki syndrome, then she is really lucky.

Because at present, her body only shows damage to the motor system, nervous system, respiratory system and slight cardiovascular system.

If it is a serious illness, I am afraid it will be difficult to live until now!

Based on the inspection report alone, that's all he can judge.

"Hello, Director."

"Qin Feng, what's the matter so late?"

On the phone, Meng Dawei asked curiously.

"That's right. I want the phone number of Director Song of Neurology Department. I met a patient and wanted to get to know him."

Qin Feng explained.

"Neurologist Song Yuan? What kind of patients have you met?"

Hearing his words, Meng Dawei was stunned.

What's the situation?

Didn't you just have a holiday this afternoon?

Meet the patient again!

"At present, it is likely to be a genetic defect. Last year, the patient came to our hospital for an internal examination. Because it is quite special, I would like to ask Director Song to find out."

"Genetic defect?"

As soon as Qin Feng finished speaking, Meng Dawei also froze.

He has had severe illnesses for so many years, and he has seen some patients with severe illnesses caused by genetic defects.

Generally speaking, when the word gene is involved, it is equivalent to a death sentence for a doctor.

"Yes, according to the test results, the problem is the 8th chromosome, but I don't understand it and I want to ask Director Song."

Qin Feng roughly said something.

Meng Dawei was silent for a few seconds, and sent Director Song Yuan's cell phone number to him.

However, he does not suggest contacting him now. Song Yuan should be asleep at this time, so he can call him tomorrow morning to ask.

Qin Feng agreed,

"Okay, thank you, Director."

"It's hard for you to rest for two days, go to bed early, the body is the capital of the revolution."

Meng Dawei persuaded helplessly.

Looking at Qin Feng's desperate efforts, he felt a little worried, and spent the whole day among various patients and cases.

From simple to difficult, from burns to brain, almost half of the patients in the hospital's departments have been treated once, and this directly hits the genes.

This guy does this every day, how does he have a girlfriend?

After hanging up the phone, Qin Feng looked through the little girl's case carefully.

Kacha~

"Do not you go to sleep?"

At this moment, Liu Yan'er poked her head out and said with concern.

"Here is a case, I want to look at it again, and I will go back to accompany you in a while."

Qin Feng heard this and said with a smile.

"Oh, well, I'll wait for you."

Liu Yan'er nodded, then walked in, put down a fruit plate, which contained a few peeled walnuts,

"Don't be too tired, eating some walnuts will not nourish your brain."

"Thank you~"

He teased Tiantou and looked at that pretty face, "My brain is much stronger than ordinary people."

"If you stay up late like this, I won't be responsible if you have a stroke."

Liu Yan'er rolled her eyes angrily.

"If you dare, Director Chen must fight you hard."

Qin Feng raised his hand and flicked her forehead gently, then stopped suddenly in the next second.

Crash!

Suddenly, as if he remembered something, he quickly spread out all the inspection reports.

He found a few CT images of the brain, and it was written that the blood vessels were slightly atrophied...

Wrong!

Although Kabuki syndrome also has vascular diseases, it rarely appears in the brain.

Even if there are some special cases, there may be more than one with the same symptoms.

There is another genetically defective rare disease, neurodegeneration.

But if it's neurodegeneration, what kind?