The consequences of hypogammaglobulinemia are quite severe, mainly due to a compromised immune function.

The human immune system is a crucial part of defending against pathogenic bacteria and cells, so defects in immune function can easily lead to various diseases and infections.

This condition is usually caused by congenital genetic abnormalities or acquired genetic mutations.

Hypogammaglobulinemia primarily results from a partial or complete reduction in the concentration of serum immunoglobulins compared to normal individuals, hence it is also known as this syndrome.

Congenital hypogammaglobulinemia is generally due to the absence of one or more types of globulins among igG, igA, IG, and M.

It is only when the immune function is compromised that such symptoms are likely to occur, requiring genetic testing.

With the capability of the following hospitals, the cause of the disease is almost undetectable; only at top-tier hospitals in places like Shanghai or Beijing is it possible to find the cause, as this disease may result from multi-gene mutations.

However, it is currently difficult to definitively diagnose which specific genetic mutations are involved with existing medical techniques.

This may also explain why the little girl still does not know what disease she has and why it is untreatable.

Genetic defects are an almost irreversible disease!

"If it really is a genetic defect, then it’s troublesome."

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

So far, global efforts in the treatment of genetic defects can be likened to finding a needle in a haystack, so negligible that it can almost be ignored.

Even for chromosomal recessive diseases where genetic defects are relatively better, there are only a few treatment techniques, and success depends on luck.

For example, SMA (spinal muscular atrophy), a clinically common recessive nervous system genetic disorder.

Rare diseases are a challenge in the global medical community, yet also an area all pharmaceutical companies are reluctant to touch.

Because there is no profit!

The R&D investment for a rare disease drug far exceeds that of drugs for common diseases.

And there are very few patients with rare diseases globally, so each time a targeted treatment drug for a rare disease appears, it is priced beyond the reach of ordinary people!

Just like the drug Nusinersen for treating SMA, costing a skyrocketing 700,000 per injection!

And treatment requires 6 injections in the first year, 4.2 million!

The following year, the second year, the third year...

This is a huge cost that even the middle class can hardly bear!

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

Splash~

Qin Feng picked up the next intelligence assessment report, which showed that the little girl’s intelligence was only 59.8, classified as mild intellectual disability, far below the average for children her age.

The following reports were almost uniformly discouraging.

He put down the report and looked at the image on the lightbox; a full-body MRI showed that the fifth finger on the left hand was only about half the normal length.

The third and fourth metacarpals were significantly shortened, the wrist bones were coarse, the joints were loose, and there was a slight scoliosis of the spine.

More seriously, the little girl also had coarctation of the aorta!

Qin Feng gazed at the reports in his hand, deep in thought, flipping through all the comparisons of gene defect diseases in his mind.

However, one report caught his interest!

From last year, when the little girl’s family went to Peking Union Medical College Hospital for a complete neurological and gene sequencing assessment.

Although no conclusion was given, it was quite detailed.

Blood test showed white blood cells at 35.04×109/L, blast cells at 30%, C-reactive protein at 20 mg/L. Chest X-rays suggested exudation in the left lower lung. High-resolution lung CT indicated interstitial changes in both lungs.

Bilateral auditory brainstem response threshold at 100 dB. No significant abnormalities on urine metabolic screening. Chromosome 46, XY.

Whole exome sequencing on day 14 revealed a KMT2D gene mutation in the patient, mutation site c.11944C>T, p.R3982...

The name on this report was both familiar and unfamiliar.

It was the director of the neurology department, Song Yuan.

Judging by this report and the little girl’s strikingly unusual appearance.

Qin Feng felt it was very likely a kind of illness.

Kabuki Syndrome!

This is a very special genetic defect disease.

KS (OMIM 147920) is an autosomal dominant genetic disorder.

Mainly characterized by postnatal developmental delay, skeletal abnormalities, distinctive facial features, congenital visceral malformations, abnormal skin texture, and mild to moderate intellectual disability.

The facial features include characteristic eversion of the lower eyelids, resembling the makeup of Kabuki actors, hence the name.

Early abnormal signs of KS are not obvious, diagnoses during infancy and the neonatal period are few, but reported cases have been increasing in recent years due to advances in genetic testing technology.

Currently recognized KS mutation genes include KMT2D and KDM6A, both causing chromatin remodeling through histone modification and regulating gene expression.

However, there is currently no method known globally for this syndrome!

Overall, there is no compelling evidence proving any specific genetic abnormalities in Kabuki Syndrome, and it cannot yet be confirmed as a monogenic disease.

Thus, even though all symptoms somewhat point toward the syndrome, a definitive diagnosis cannot be made.

Even the neurology expert could not provide a detailed diagnosis.

He decided to call Director Song Yuan to inquire about this case.

Since these cases are rare, it should leave some impression.

Considering this, if the little girl truly has Kabuki Syndrome, she is rather fortunate.

Currently, her body only exhibits damage to the motor, nervous, respiratory systems, and mild cardiovascular issues.

If it were severe, it would have been challenging to survive until now!

Based solely on the examination reports, this is all he can ascertain.

"Hello, Director."

"Qin Feng, what’s going on so late?"

On the other end of the line, Meng Dawei curiously asked.

"It’s like this, I wanted the phone number of Neurology Director Song to discuss a case with a patient."

Qin Feng explained. 𝑓𝑟𝑒𝘦𝓌𝑒𝑏𝑛𝑜𝘷𝑒𝘭.𝒸𝘰𝑚

"Neurology’s Song Yuan? What kind of patient have you encountered now?"

Meng Dawei was puzzled upon hearing this.

What’s going on?

Wasn’t it just this afternoon when you went on leave?

You found another patient already!

"At the moment, it seems likely to be a genetic defect. The patient came to our hospital last year for a neuro check, so it’s special, and I want to know more from Director Song."

"Genetic defect?"

Qin Feng had just finished speaking, and Meng Dawei was already stunned.

He had encountered some severe cases caused by genetic defects in his many years in critical care.

Generally, the word ’gene’ equates to a death sentence for doctors.

"Yes, according to the results, the problem is on chromosome 8, but some parts are unclear to me, so I want to ask Director Song."

Qin Feng roughly explained.

After several seconds of silence, Meng Dawei sent him Director Song Yuan’s mobile number.

However, he suggested not contacting him now, as he should be asleep. It’s better to call him tomorrow morning.

Qin Feng agreed,

"Alright, thank you, Director."

"You’ve finally got a two-day rest, get some sleep early; health is the greatest wealth."

Meng Dawei advised with helplessness.

Seeing Qin Feng’s tireless effort worries him, spending all days among various patients and cases.

From simple to complex, from burns to neurology, he had treated patients from almost half the hospital departments, now directly delving into genetics.

How does this guy manage to have a girlfriend, working like this every day?

After hanging up, Qin Feng meticulously reviewed the little girl’s case from the beginning again.

Click~

"Aren’t you sleeping yet?"

At that moment, Liu Yan’Er poked in her head, concerned.

"There’s a case I want to review again; I’ll be back with you shortly."

Hearing this, Qin Feng replied with a smile.

"Okay then, I’ll wait for you."

Liu Yan’Er nodded, then came in, placing a fruit platter with shelled walnuts inside,

"Don’t tire yourself out too much, eat some walnuts to nourish your brain."

"Thanks~"

Qin Feng teased, looking sweetly at her beautiful face, "My brain is much sharper than average."

"Pfft~

If you have a stroke from staying up late, I’m not responsible."

Liu Yan’Er playfully rolled her eyes.

"How dare you, Director Chen would wrestle with you over it."

Qin Feng playfully flicked her forehead lightly before suddenly stopping.

Rustle rustle~

Suddenly, as if something came to mind, he quickly spread out all the examination reports.

He found a few brain CT images, showing vascular slight atrophy on them...

Something’s not right!

Although Kabuki Syndrome also involves vascular issues, they rarely present in the brain.

Even if some particular cases had similar symptoms, this wasn’t the only possible disease present.

There is also another rare genetic defect illness, neurodegeneration.

But if it’s neurodegeneration, then which kind?