Premature aging exists in real life. Once it occurs, it is a disaster.

When you are busy with work and in a bad mood, it is common to have a few white hairs. Often at this time, we will blurt out a sentence - "Premature aging!"

However, the reality of premature aging is much more cruel than we imagine, such as "Cockayne syndrome".

1

Catastrophic Cockayne Syndrome

Cockayne syndrome (CS) is a very rare autosomal recessive genetic disease that was discovered by Dr. Cockayne in 1936.

This disease is extremely cruel. It can turn plump and fair infants and young children into old and frail ones. It is difficult for people to watch a healthy child being mercilessly tortured!

Image source: Ageing Res Rev

Children with the disease are normal at birth, and the disease usually begins to develop at around 2 years old. The child's face gradually becomes older, and the cheeks become thinner. Due to the reduction of fat tissue, the eyeballs become sunken, accompanied by optic nerve atrophy and auditory nerve damage, eventually leading to complete loss of vision and hearing.

The patient has cataracts and corneal opacities in the eyes (left), and a reduction in hair cells in the cochlea (right). Image source: Cockayne syndrome: Clinical features, model systems and pathways

In addition, compared with children of the same age, these children are short in stature, but have relatively large hands and feet, and longer arms and legs. As the disease worsens, the children's skin becomes extremely sensitive to light, and light shining on the skin can easily cause blisters.

The patient's bones will also be abnormal, manifested as dental caries, hunchbacks, and some older patients will also suffer from osteoporosis. In addition, the disease will also have serious symptoms of neurological degeneration. The patient has very obvious microcephaly, mental retardation, intellectual disability, and even difficulty walking.

Further exploration revealed that the patients' cerebral cortex was slightly thinner than that of healthy people (left), and that some Purkinje cells (a type of neuron that transmits impulses from the cerebellar cortex, right) were lost in the patients' cerebellum.

Comparison of cerebral cortical thickness and number of Purkinje cells between healthy people and patients. Image source: Cockayne syndrome: Clinical features, model systems and pathways

Children with the disease have a hard time surviving the disease. Even if they overcome these hardships, their survival rate is very low, with an average death age of only 12.5 years! The main causes of death are pneumonia and respiratory infections.

Why do some people develop such rare and terrible diseases?

2

One in eight million

The incidence of Cockayne syndrome is 1 in 8 million.

You may think: "Such a low incidence rate, what does it have to do with me?" Yes, the incidence rate is indeed very low, but once you get sick, it is a disaster.

Currently, two pathogenic genes for Cockayne syndrome have been identified, namely the ERCC8 gene located on chromosome 5 and the ERCC6 gene located on chromosome 10.

The disease is divided into two categories: CSA type, caused by mutation of ERCC8 gene on chromosome 5, which results in inability to synthesize CSA protein; CSB type, caused by mutation of ERCC6 gene on chromosome 10, which results in inability to synthesize CSB protein. Among them, CSB type accounts for about 70%-75%.

Cockayne syndrome is an autosomal recessive genetic disease. If both the mother and the father carry the disease gene, there is a 25% chance that the offspring will be affected by the disease.

Image source: 699pic

3

3 diagnostic methods

There are currently three methods for diagnosing this disease. The first is to diagnose based on typical clinical symptoms.

The second step is to conduct a specific DNA repair test, which is the repair of RNA synthesis after UV exposure of the skin.

The last step is to use gene sequencing technology to detect whether the patient carries the pathogenic gene or has a gene mutation.

4

Cannot be completely cured

There is currently no complete cure.

Conventional physical therapy includes cochlear implant surgery to save the patient's hearing, cataract surgery to slow vision loss, active sun protection to reduce ultraviolet burns to the skin, and attention to nutritional supplements, etc., trying to relieve the patient's pain through these symptomatic treatments.

In addition to the above symptomatic treatments, Peking University Third Hospital treated a 14-year-old patient using the placental stem cell method (the patient had a healthy younger brother through in vitro fertilization technology, and a type of cell called mesenchymal stem cells was isolated from the boy's placenta and transplanted into the patient). After the treatment, the patient's liver and kidney functions improved, and his appetite and desire to communicate increased.

Image source: Beijing TV

We hope that with the advancement of science and technology, better treatments will be available for this disease. Of course, for high-risk families, pre-pregnancy screening and prenatal diagnosis can prevent the birth of children with the disease.

Although rare diseases are rare, they are very harmful. I hope everyone will pay attention to prenatal consultation and prenatal diagnosis.

END

Reviewer: Mao Xinmei, Chief Physician of Pediatrics, Ningxia Children's Hospital

Tadpole Musical Notation original article, please indicate the source when reprinting

Editor/Xiao Xitushuo