The 7 -year -old child has repeated respiratory infections, but it has primary cilia motor disorders

On July 8th, the Children's Hospital of Luzhou First People's Hospital breathed a head of Xie Bing, the main physician of the Children's Hospital received a child with a repeated cough and sputum for more than 7 years. Lei Lei ’s cough and sputum symptoms are obvious and thin. It is conceivable that because of repeated illness, the nutritional state is already lower than that of children of the same age.

It is reported that Lei Lei has moved to many hospitals for medical treatment, but the symptoms of respiratory tract infection still frequently occur, which really distressed his family members. The unsuccessful experience of Lei Lei immediately attracted the attention of the second and third -tier doctors of the department, and developed a comprehensive examination and preliminary treatment plan for the children.

Over time, the results of the inspection came out one after another. Within a full set of immune sets, the mycoplasma, chlamydia, tuberculosis, and fungal infections were excluded. But the chest CT shows bis pulmonary pneumonia (increased texture of both lungs, thickening, dual lobe leaf and middle leaf leaf bronchial pupae, cylindrical expansion, high -density shades of spots on the edge, blurred border), full organs all transfer Pass.

The color Doppler ultrasound also shows the right position of the mirror. Nasopharyngeal mirror:

1. Rhinitis

2. sinusitis

3. Gland sample hypertrophy

Deputy Chief Physician Chen Shuhua performed bronchial mirror inspection and alveolar washing surgery for Lei Lei. A large amount of white mucus sputum was seen in the trachea cavity. After thousands of hardships, the mucus sputum in the lungs was cleaned up.

Looking back on a series of clinical data, I foresee that the disease is extraordinary. Director Zhang Biqing jointly breathe the medical personnel of the first and second districts to discuss case discussions. treatment plan.

After the doctor explained the condition in detail and communicated properly, the genetic testing was improved. After two bronchial mirror mirror and alveolar irrigation, effective anti -infection, atomization and other treatment, Lei Lei cough and sputum symptoms gradually improved.

One month later, Lei Lei's genetic outer outer sub-sequencing report showed that the genes were mutated, and it also further verified everyone's inference. It turned out that Lei Lei suffered from rare diseases of the respiratory department: primary cilia dysfunction (PCD)---- -Kartagner syndrome.

What is primary cilia motor disorder?

Primary cilia motor disorders, including Kartagner syndrome, non -moving cilia syndrome, and ciliary movement defects. It is generally believed that it is a hidden inheritance of ingotin, and its clinical diseases are relatively wide, which can involve all the distribution of cilia, and the most common respiratory tract infection caused by airway cilia functional disorders;

Sperm whip and hair, vasal pipes, wallow tubal cilium capacity disorders can cause infertility or infertility; cilia functional disorders at the middle ear and sinuses cause otitis media and sinusitis; Deafness and olfactory disorder. Kartagner syndrome consists of the following triadis:

① Extension of bronchial tube

② P to sinusitis or nasal polyps

③ Internal organs (mainly the right center), familyity.

When there are typical clinical manifestations such as: chronic and repeated respiratory infections, accompanied by bronchial dilatation, sinusitis, otitis media, male infertility, etc., the Kartagener syndrome should be considered when the organs are transferred.

After this, we learned that if the body has symptoms of diseases and the long -term treatment effect is poor, it may be a difficult disease. We must go to a regular hospital to regulate the system's investigation and treatment.

(Edit ZS. Part of the picture source network, invading deletion)

Hunan Medical Chat Special Author: Chenzhou First People's Hospital Ou Shuteng

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