Etiological Work-Up for Adults with Bronchiectasis: A Predictive Diagnostic Score for Primary Ciliary Dyskinesia and Cystic Fibrosis.

Frederic Schlemmer,Laurence Jabot,Agnes Hamzaoui,Bernard Maitre,Gilles Mangiapan,Bruno Housset,Sonia Zebachi,Isabelle Monnet,Laurence Bassinet,Aurelie Le Thuaut,Sylvie Bastuji-Garin,Amel Boudjema

doi:10.3390/jcm10163478

Abstract

Background: etiological investigations are not done for all adult patients with bronchiectasis because of the availability and interpretation of tests. The aim of the study was to elaborate a score to identify patients at high risk of having cystic fibrosis or primary ciliary dyskinesia (CF/PCD), which require appropriate management. Methods: diagnostic work-ups were carried out on a French monocenter cohort, and results were subjected to logistic-regression analyses to identify the independent factors associated with CF/PCD diagnosis and, thereby, elaborate a score to validate in a second cohort. Results: among 188 patients, 158 had no obvious diagnosis and were enrolled in the algorithm-construction group. In multivariate analyses, age at symptom onset (8.69 (2.10–35.99); p = 0.003), chronic ENT symptoms or diagnosed sinusitis (10.53 (1.26–87.57); p = 0.03), digestive symptoms or situs inversus (5.10 (1.23–21.14); p = 0.025), and Pseudomonas. aeruginosa and/or Staphylococcus aureus isolated from sputum (11.13 (1.34–92.21); p = 0.02) are associated with CF or PCD. Receiver operating characteristics curve analysis, using a validation group of 167 patients with bronchiectasis, confirmed the score’s performance with AUC 0.92 (95% CI: 0.84–0.98). Conclusions: a clinical score may help identify adult patients with bronchiectasis at higher risk of having CF or PCD.

Highlights

Bronchiectasis is a lung condition involving abnormally dilated, thick-walled bronchi that are chronically inflamed and infected by bacteria
Because we think that CF and PCD share similar clinical symptoms, we examined the characteristics associated with CF and PCD (CF/PCD) diagnosis
Among 206 adult patients with bronchiectasis who were recruited, 18 with missing data were immediately excluded, leaving 188 who underwent extensive etiological workups; their characteristics are reported in online Supplementary Table S1

Summary

Introduction

Bronchiectasis is a lung condition involving abnormally dilated, thick-walled bronchi that are chronically inflamed and infected by bacteria. This disease frequently results in notable physical and social morbidity. Treatment is generally symptom-oriented to limit progressive functional loss. Identification of the cause may lead to management changes, thereby improving treatment efficacy, obtaining a more precise prognosis estimation and allowing for genetic counselling [1]. Appropriate management is crucial for three specific diseases: primary ciliary dyskinesia (PCD), cystic fibrosis (CF) and common variable immunodeficiency (CVID). The British Thoracic Society (BTS) and European Respiratory Society (ERS) Bronchiectasis Task Force proposed a minimum etiological test bundle for adults with newly diagnosed bronchiectasis: differential blood count, serum immunoglobulins

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