Clinical Characteristics And Genetic Diagnosis Of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a clinical rare, monogenic autosomal recessive inherited disease. Currently, genetic mutations which located on the X chromosome about PCD were reported. The prevalence of the disease is about 1/30 000-1/60000, with different reports around the world. The patients with PCD varies from infants to adults, common in children and young people. The prevalence of PCD is not related to geography, race and sex but the intermarriage in some areas and race (such as the Caucasus) induced a high incidence of PCD. The clinical features are mainly recurrent secretory otitis media, upper respiratory tract infections, bronchitis/ bronchiectasis, chronic sinusitis, situs inversus, male and female infertility. The patients characterized by situs inversus, chronic sinusitis and bronchitis/ bronchiectasis are called Kartagener syndrome,which is half of patient with PCD.In recent years, Scholars put more and more attentions in clinical diagnosis and genetic diagnosis of PCD. The research from the past single saccharine test and nasal cilia ultrastructure by electron microscopy, gradually turned to the history, symptoms, clinical signs, imaging features, nasal nitric oxide(NNO), saccharine test,nasal cilia ultrastructure, genetic testing and so on. The combined methods ensure the timeliness and accuracy of diagnosis. Until now there are no uniform diagnostic criteria of PCD and long-term follow-up recordings of PCD patients in China.Objective:Analyzing the clinical characteristics of PCD and combining the comprehensive diagnostic methods, so as to improve the diagnosis of PCD. Through follow-up study 15 cases with PCD about disease progression in 3-12 years and giving them appropriate clinical guidelines and treatment, in order to make PCD patients effectively controlled and stop to progress.Methods:Fifteen cases were enrolled in our study, who visited the department of Otolaryngology Head and Neck Surgery in PLA General Hospital during the past 3-12 years. The patients were evaluated by history, physical examination, lung CT or chest X-ray and rhinosinus CT, in accordance with the standards proposed by Bush. Seven patients had genetic testing after performing informed consent. This study retrospectively analyzed 15 PCD cases with history, symptoms, signs, lung CT or chest X-ray, rhinosinus CT as well as saccharine test, NNO,nasal cilia ultrastructure, genetic testing,treatment and so on. By telephone follow-up and periodic interview of the patients, we observed the disease progression and adjusted the treatment plan.Results:All of the 15 PCD patients had recurrent chronic sinusitis, bronchitis/ bronchiectasis and other medical history. Eleven cases with situs inversus were diagnosed Kartagener syndrome. One woman and 4 men had infertility after marriage for many years. Because of the cost and personal factors, there were only 3 cases of patients had NNO measurement. NNO concertration of 2 cases was significantly lower, and 1 case normal. The nasal cilia ultrastructure of 4 cases was normal, no inner or outer dynein arm missing. One patient showed mutation in DNAH11 by Exome capture sequencing, then was verified by Sanger sequencing. There were no mutations in DNAH11 by Sanger sequencing in other 6 cases. All of the 15 cases of PCD received long-term drug therapy,5 cases had undergone functional endoscopic sinus surgery,6 cases punctured the eardrum and 3 cases had tympanostomy tube surgery in PLA General Hospital or other hospital. After long-term follow-up, all of the 15 cases are well, no serious complications.Conclusion:PCD is so rare in clinical and its characteristics is so different in individual that it is easily misdiagnosed. Clinicians fail to put enough attention to PCD patients. Analysis of clinical characteristics, saccharine test, NNO,nasal cilia ultrastructure and genetic testing in combination, contribute to the diagnosis of PCD. By the observation of PCD patients in disease progression in 3-12 years, and giving them appropriate clinical guidelines and treatment, we find that PCD patients can be effectively controlled and stop to progress, no serious complications happen. Besides, the quality of life of PCD patients can be greatly improved.