A Single-center Study Of The Clinical Manifestations And Progression Of Cystic Fibrosis Patients

BackgroundCystic fibrosis(CF)is one of the most common life-threatening autosomal recessive diseases in Caucasians.It is caused by the mutation of cystic fibrosis transmembrane conductance regulator(CFTR)which affects multiple organs.Recurrent pulmonary infection and bronchiectasis,pancreatic insufficiency(PI),malnutrition and congenital bilateral absence of the vas deferens are common manifestations of CF patients.The morbidity of CF in China is hard to get and symptoms of Chinese CF patients seem varied from Caucasians,while the progress of the disease and prognosis-related factors have not been described ever in Chinese.PurposesThe aim of this study was to retrospectively reviewed CF Chinese cohort database in Peking Union Medical College Hospital.We collected the clinical characteristics,blood tests,computed tomography(CT)scans,sputum pathogens,sweat chloride tests and CFTR mutation results from the Chinese patients.We focused on the pulmonary function and sputum culture changes during follow-up and tried to find out the relationship between pulmonary function and sputum etiology,and genotype.MethodsPatients with a definite diagnosis of CF confirmed in Peking Union Medical College hospital during Jan,2006 and Mar,2018 were included in the study.Blood and sputum samples were collected.Results1.In total,37 patients consisting of 11 males and 26 females were included.One patient has a German parent.The others were Chinese Han origin.Nine patients had definite or suspicious family history.Median age at onset of symptoms was 6y(0.17-11y)and median age at diagnosis was 16y(11-21 y).2.Median level of sweet chloride test was 122.1mmol/l(69.4-156.4mmol/l).CFTR gene mutation analysis showed positive in 36 patients,and 15 of them carried p.G970D.3.32.3%(10/31)of patients presented with low body mass index(BMI),and 12.9%(4/31)of them had height retardation.4.91.9%of patients presented of productive cough,and 35.1%(13/37)of the patients had allergic bronchopulmonary aspergillosis(ABPA),4 patients were thought to have PI due to their positive Sudan III staining results in fecal.Semen tests of 2 adults males accorded with congenital bilateral absence of the vas deferens(CBAVD).5.CT scans found 96%(24/25)patients presented as diffuse bronchiectasis dominating in upper lungs.6.Twenty-seven patient underwent pulmonary function test,and 48.1%had obstructive pattern.70.4%of patients had FEV1%pred lower than 80%.7.All 29 sputum cultures were positive with the highest positive rate for PA(79.3%,23/29,within which 19 cases were detected more than twice.8.We could not find any relationship between PA colonization,p.G970D carrier or ABPA and the patients’ pulmonary function tests,p =0.697,0.413,0.679 respectively;FEV1%pred and PA infection,p.G970D carrier or ABPA,p = 0.897,0.217,0.433 respectively).9.P.G970D carrier had no tendency to combine with ABPA in our group.10.In patients with lower BMI in age 7 tol 8 years old were more likely to had lower FEVi and FEVi%pred compared with those with normal BMI(p = 0.027,0.006).We also observed the similar results in patients in age older than 18 years old.11.FEV1%pred declined in 4 out of 10 patients after 2 years follow-up(the decline rates between 7.8%and 26.1%).Conclusion:Compared with Caucasian,PI was infrequent in CF patients in our group.Patients generally presented as recurrent pneumonia and diffuse bronchiectasis.PA was the most common pathogen from sputum culture.Lower BMI is related with worse pulmonary function results.No evidence showed that PA colonization or ABPA comorbidity had relation to worse pulmonary function results.p.G970D showed the highest frequency but no relation with severity of CF.Variation trend of pulmonary function was unclear after 2 years follow-up.