Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre

被引:4
作者
Armengot-Carceller, Miguel [1 ,2 ,3 ]
Reula, Ana [3 ,4 ]
Mata-Roig, Manuel [4 ]
Perez-Panades, Jordi [5 ]
Milian-Medina, Lara [4 ]
Carda-Batalla, Carmen [4 ]
机构
[1] Univ Valencia, Fac Med, Surg Dept, Valencia 46010, Spain
[2] Univ & Polytech Hosp La Fe, ENT Serv, Valencia 46026, Spain
[3] IIS La Fe, Grp Biomed Mol Celular & Genom, Valencia 46026, Spain
[4] Univ Valencia, Pathol Dept, Fac Med, Valencia 46010, Spain
[5] Generalitat Valenciana, Conselleria Sanitat Universal & Salut Publ, Subdirecc Gen Epidemiol Vigilancia Salud & Sanida, Valencia 46010, Spain
关键词
standard diagnosis; reference centres; clinical presentation; cilia; primary ciliary dyskinesia;
D O I
10.3390/jcm9030810
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background: Due to the lack of a gold standard diagnostic test, reference centres with experienced personnel and costly procedures are needed for primary ciliary dyskinesia (PCD) diagnostics. Diagnostic flowcharts always start with clinical symptoms. Therefore, the aim of this work is to define differential clinical criteria so that only patients clinically compatible with PCD are referred to reference centres. Materials and methods: 18 variables from 476 Mediterranean patients with clinically suspicious PCD were collected. After analysing cilia function and ultrastructure, 89 individuals were diagnosed with PCD and 387 had a negative diagnosis. Simple logistic regression analysis, considering PCD as a dependent variable and the others as independent variables, was done. In order to define the variables that best explain PCD, a step-wise logistic regression model was defined. Aiming to classify individuals as PCD or PCD-like patients, based on variables included in the study, a classification and regression tree (CART) was designed. Results and conclusions: Simple logistic regression analysis shows statistically significant association between age at the beginning of their symptomatology, periodicity, fertility, situs inversus, recurrent otitis, atelectasis, bronchiectasis, chronic productive cough, rhinorrea, rhinusinusitis and recurrent pneumonias, and PCD. The step-wise logistic regression model selected situs inversus, atelectasis, rhinorrea, chronic productive cough, bronchiectasis, recurrent pneumonias, and otitis as PCD predictive variables (82% sensitivity, 88% specificity, and 0.92 Area Under the Curve (AUC)). A decision tree was designed in order to classify new individuals based on pansinusitis, situs inversus, periodicity, rhinorrea, bronchiectasis, and chronic wet cough.
引用
收藏
页数:12
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