Primary Cilary Dyskinesia:Report Of Four Case And Review Of The Literature

Objective:To evaluate the diagnosis of primary ciliary dyskinesia(PCD).Method:Clinical data of four patients diagnosed as PCD in the First Affiliated Hospital of Guangxi Medical University were reported.479 cases of PCD from literatures from Janurary 2000 to Janurary 2017 were summarized and analyzed.Results:(1)Case reports:Four patients were finally confirmed to PCD.One was male,and other were female.One of the patients had a family history of bronchiectasis.The onset age of them varied from 15 years to 42 years,the diagnosised age ranged from 31 to 62 years.All the four patients had chronic cough,sputum production and chronic rhinitis and sinusitis,two patients had shortness of breath or dyspnea,two patients had hemoptysis.One patient had infertility.Three patients had hypoxemia,The of pulmonary functions in two patients showed one patient had obstructive ventilatory dysfunction and another patient had mixed ventilatory dysfunction.Both patient had dispersion function dysfunction;Chest high-resolution computed tomography(HRCT)revealed bronchiectasis in all four patients.The biopsy specimen had been reserved for electron microscopy(EM)found to be consistent with PCD,two patients were absent of patients,the cilia were scarce in two patients,and four patients had abnormal microtubule or central microtubule displacecement.By whole exome sequencing,we identified missense variant in six gene exons.Patient 1:A novel homozygous missense aberration(c.A199G)was identified in the exon 2 of ZMYND10 gene,and a novel homozygous missense aberration(c.A2209G)was identified in the exon 16 of OFD1 gene.Patient 2:A novel homozygous missense aberration(c.G7171T)was identified in the exon 50 of DNAH8 gene.Patient 3:A novel homozygous missense aberration(c.A1223G)was identified in the exon 8 of CCDC65 gene,and a novel homozygous missense aberration(c.G 1540A)was identified in the exon 14 of OFD1 gene.Patient 4:A novel homozygous missense aberration(c.C10966T)was identified in the exon 67 of DNAH11 gene.OFD1 is on the X chromosome.(2)Literature review results:We further extracted information from literature for those 479 PCD patients in the world.Of these cases,255 were male and 224 were female,the ratio of male to female ratio of 1.14:1.The onset age of symptoms varied from newborn to 73 years.The age of onset was highest in the 0-10 age group,accounting for 63.3%,course of disease>10 years was 56.5%(117/207),14.4%of the 479 patients had family medical history.There were 8.5%patients born to consanguineous parents.The common performance were cough?sputum?hemoptysis?shortness of breath?nasal congestion?purulent nasal discharge.Some patients were mainly otitis media,hearing loss,and some only performance performance for infertility.Bronchiectasis in all lobe and lower lobe were more common.In the early stages of the disease,blood gas analysis and pulmonary function tests was normal,with the progress of the disease,patients may have hypoxemia and obstructive ventilatory dysfunction.Ciliary electron microscopy had done in 26.9%of the patients,and 90.7%of them showed cilia structural abnormalities.Gene sequencing had done in only 6.5%of the patients,and 45.2%of them showed aberration.The current diagnostic methods are mainly ciliary electron microscopy and genetic diagnosis,followed by nasal NO level and high-speed video microscopy.The main treatment is symptomatic treatment.The prognosis is relatively good.Conclusion:1.Primary ciliary dyskinesia(PCD)is a rare,genetically heterogeneous disease with an autosomal recessive mode of inheritance,also be seen in the X-chromosome abnormalities.PCD has a tendency to gather in the family,most of the age of onset after birth and adolescence.2.The maily clinical manifestation of PCD includes cough and purulent sputum,followed by nasal congestion,and rhinorrhea,but also for the shortness of breath,hemoptysis.Screening test(including nasal NO level,saccharin test)showing abnormal may have a certain significance to PCD,making a definite diagnosis needs to doing the diagnostic tests(including electron microscopy,genetic examination),ciliary electron microscopy can find abnormal structural,genetic examination can find aberration gene.3.The clinician lack of knowledge of PCD in adults,PCD with situs inversus is easy to diagnose,while the one without situs inversus is easily missed diagnosis.Patients who are with diffuse bronchiectasis need to be asked the history of sinusitis,history of otitis media,hydrocephalus history,fertility history,family history,the incidence of juvenile.For the patients who onset since childhood and treatment repeated in adolescent,while chest radiography showing diffuse bronchiectasis need to identify PCD.The diagnosis of PCD without situs inversus depends on ciliary electron microscopy and genetic examination.4.The current diagnostic methods mainly are electron microscopy of cilia and genetic diagnosis,but the mutation does not mean that there must be cilia dysfunction,mutations and PCD pathogenesis of the relationship remains to be further studied,and cilia dysfunction related to PCD gene research should be the focus of future research.Our opinion is that genetic testing and ciliary electron microscopy should be combined to make PCD diagnosis.5.PCD has no special treatment,the mainly treatment includs anti-infection and symptomatic treatment,and the prognosis is relatively good.