Primary ciliary dyskinesia is a disorder caused by structural defects in cilia and is an autosomal invisible disorder with an incidence of approximately 1:30,000-1:60,000 reported abroad. Report. The patient, a 15-year-old female, had recurrent cough, sputum, and wheezing symptoms for several years. The patient had a history of recurrent otitis media in infancy and a history of chronic sinusitis and asthma. Chest CT showed bilateral lower lobe bronchiectasis combined with a solid right middle lobe airspace. Physical examination: the vital signs were normal and well developed, and croup could be heard in both lungs. The case is characterized by wheezing, recurrent pulmonary infections, and bronchiectasis and needs to be differentiated from the following diseases: pulmonary cystic fibrosis, immunodeficiency disease, complement deficiency, allergic bronchopulmonary aspergillosis, alpha1 antitrypsin disease, repetitive aspiration pneumonia, foreign body irritation, bronchial carcinoid, right middle lobe pneumonia, uncontrolled asthma, and primary ciliary dyskinesia. Tests to be completed: diagnostic sweat test, genetic analysis for pulmonary cystic fibrosis, immunoglobulin testing, IgG titers before and after the use of Streptococcus pneumoniae antigen and tetanus toxin, complement levels, blood work, lymphocyte typing, pulmonary function, alpha1 antitrypsin levels, skin allergen test, barium esophagogram, radionuclide gastric emptying imaging, fiberoptic bronchoscopy, cilia structural evaluation, and/or genetic testing. Positive findings: C.48+2dupT gene mutation; exhaled breath NO test <5ppb. Final diagnosis: primary ciliary dyskinesia (PCD) 1. Name In 1933, Kartagener reported a group of cases with a clinical triad (sinusitis, bronchiectasis, visceral inversion), later called Kartagener syndrome. 1976, Afzelius et al. Afzelius et al. found ultrastructural defects of cilia on electron microscopy in this disease. Subsequent studies showed that most patients had ciliary stiffness, incoordination, and/or ineffective ciliary oscillation, and eventually it was named primary ciliary dyskinesia (PCD). The disease is autosomal invisible. It is divided into primary and secondary, and the secondary is mostly caused by cilia abnormalities due to infection and chronic inflammation. The clinical manifestations of PCD may vary by age (see Table 1). Most patients with PCD have normal pulmonary function, which may gradually decline over time, and PCD imaging abnormalities include peribronchial thickening, pulmonary atelectasis, and bronchiectasis. PCD usually accumulates in the middle and lower lobes of the lung and rarely in the upper lobes. Infection of the PCD airways can occur early and is the leading cause of PCD morbidity and mortality. Infections with Haemophilus influenzae, Streptococcus pneumoniae, Staphylococcus aureus, and Catamorphosis are common. Older adults with complicated lung disease have a higher chance of infection with Pseudomonas aeruginosa and nontuberculous mycobacteria. 3. PCD diagnosis The diagnosis can be clarified based on clinical manifestations, combined with cilia ultrastructural testing and testing of relevant variant genes encoding ciliary proteins. Because the technology used for diagnosis is specialized and not yet widespread, it should be performed at a large clinic. The initial screening for PCD can be performed using nasal exhaled breath NO testing and the saccharine test, which is not used to diagnose PCD as it is usually lower in patients with PCD than in other lung diseases, and can be used to rule out PCD with normal or high exhaled breath NO. The saccharine test is used to assess mucosal cilia function. This test is performed by placing saccharin in the patient's inferior turbinate and testing the time from placement to sensation of sweetness. In normal subjects, the sweetness of the saccharin is felt within 15 minutes, while in patients with PCD, the sweetness is usually felt after 1 hour of placement. This test is more difficult and less feasible for children and has been abandoned by most research centers. Electron microscopy of cilia ultrastructural defects, traditionally considered the "gold standard" for the diagnosis of PCD, is no longer used alone. This test is normal in up to 30% of patients with PCD. The most common cilia structural defects are cilia detachment and shortened ectodermal protein arms. In patients with suspected PCD who have normal cilia structure, a combination of genetic testing is required for diagnosis. Currently, it is thought that the relevant genes are located in the axoneme kinesin DNAI 1, DNAI 2, DNAH 5, DNAH 11 and TXNOC3. 4. Treatment of PCD There are no drugs available for PCD and no treatment to improve ciliary dyskinesia. Available treatments are mainly symptomatic: promoting sputum expulsion, treating infections, maintaining or improving lung function, and preventing chronic lung injury. Some studies suggest that recombinant human deoxyribonuclease and hypertonic saline may help with sputum elimination. Influenza vaccination and Streptococcus pneumoniae vaccination are recommended for patients with recurrent infections. Bronchodilators and inhaled glucocorticoids may be used in patients with airway obstruction. Additional use of macrolides such as azithromycin may help to improve local inflammation. Attention should also be given to strengthening physical fitness with exercise.