Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

Contarini, Martina; Shoemark, Amelia; Rademacher, Jessica; Finch, Simon; Gramegna, Andrea; Gaffuri, Michele; Roncoroni, L.; Seia, Manuela; Ringshausen, Felix C.; Welte, Tobias; Blasi, Francesco; Aliberti, Stefano; Chalmers, James D.

doi:10.1186/s40248-018-0143-6

Cited by 30 publications

(24 citation statements)

References 79 publications

(102 reference statements)

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“…One critical aspect before starting the diagnostic flowchart in a PCD reference centre is to define which are the key clinical manifestations [27,28]. With this aim, the step-wise logistic regression analysis of this work associates situs inversus, atelectasis, rhinorrhea, chronic productive cough, bronchiectasis, recurrent cases of pneumonia, and otitis as PCD predictive variables.…”

Section: Discussionmentioning

confidence: 99%

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

Armengot-Carceller

Reula

Mata‐Roig

et al. 2020

JCM

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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.

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Section: Discussionmentioning

confidence: 99%

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

Armengot-Carceller

Reula

Mata‐Roig

et al. 2020

JCM

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“…For instance, infection with non-tuberculous mycobacteria (NTM) induces a local inflammatory status which determines parenchymal structural damage [ 9 , 10 ]. Ciliary dysfunction and failure of the muco-ciliary clearance, as demonstrated in patients with primary ciliary dyskinesia (PCD) and cystic fibrosis (CF), increases the risk of pulmonary infections and airway inflammation leading to the chronicity of the vortex [ 11 , 12 , 13 ]. Systemic immune diseases, such as immunodeficiency or extra-pulmonary autoimmune diseases, may cause a delayed resolution of respiratory infections followed by inflammation and structural lung damage, determining the entry in the pathophysiological vicious cycle [ 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

Protease–Antiprotease Imbalance in Bronchiectasis

Oriano

Amati

Gramegna

et al. 2021

IJMS

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Airway inflammation plays a central role in bronchiectasis. Protease–antiprotease balance is crucial in bronchiectasis pathophysiology and increased presence of unopposed proteases activity may contribute to bronchiectasis onset and progression. Proteases’ over-reactivity and antiprotease deficiency may have a role in increasing inflammation in bronchiectasis airways and may lead to extracellular matrix degradation and tissue damage. Imbalances in serine proteases and matrix-metallo proteinases (MMPs) have been associated to bronchiectasis. Active neutrophil elastase has been associated with disease severity and poor long-term outcomes in this disease. Moreover, high levels of MMPs have been associated with radiological and disease severity. Finally, severe deficiency of α1-antitrypsin (AAT), as PiSZ and PiZZ (proteinase inhibitor SZ and ZZ) phenotype, have been associated with bronchiectasis development. Several treatments are under study to reduce protease activity in lungs. Molecules to inhibit neutrophil elastase activity have been developed in both oral or inhaled form, along with compounds inhibiting dipeptydil-peptidase 1, enzyme responsible for the activation of serine proteases. Finally, supplementation with AAT is in use for patients with severe deficiency. The identification of different targets of therapy within the protease–antiprotease balance contributes to a precision medicine approach in bronchiectasis and eventually interrupts and disrupts the vicious vortex which characterizes the disease.

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“…3,4 Prevalence of BE is estimated to be 50 to 500 per 1,00,000 people, based on European datasets. 5 BE is associated with frequent acute exacerbation which are an independent predictor of progressive decline in respiratory function and poorer prognosis, compare to those with infrequent exacerbations. [5][6][7][8] Clinical profile and presentation of BE patients have changed significantly with the introduction of antibiotics.…”

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confidence: 95%

“…5 BE is associated with frequent acute exacerbation which are an independent predictor of progressive decline in respiratory function and poorer prognosis, compare to those with infrequent exacerbations. [5][6][7][8] Clinical profile and presentation of BE patients have changed significantly with the introduction of antibiotics. A large study in 1940, mortality rate was 30% with most of the patients dying before the age of 40.…”

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confidence: 95%

Clinico demographic profile of patients with bronchiectasis – A cross sectional study

Saroja¹

2021

IJIRM

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Bronchiectasis (BE) is a common but neglected chronic lung disease. Most epidemiological data are limited to cohorts from Europe and the USA, with few data from low income and middle income countries “Bronchiectasis” is a chronic debilitating respiratory condition, natural history of Bronchiectasis is variable, some patients have only a few chest infections per year with no disease progression overtime, while others have more frequent prolonged infective episodes and progress more quickly to respiratory failure with an associated increase in risk of death.A vicious cycle of infection and inflammation exists in damaged airways with patient suffering from persistent cough, purulent sputum production, recurrent chest infections and general malaise, associated with increased morbidity and reduced quality of life and socioeconomic, cost of long term management is significant. 162 CT confirmed adult patients≥ 18 years were included in the study, data of patients were retrieved demography, clinical features, causative factors, spirometry and imaging reports were studied and analysed. 162 adult patients were included in the study. Males (54%) and more than 50 years age group population [64%] was predominantly affected. 58% were non-smokers.Chronic cough (100%) with sputum production (86%) and fatigue (78%) were the most common symptoms, digital clubbing and crackles were the most common examination findings. Dominant cause of BE was post infection (46%) followed by COPD (20%), ABPA (10%) and miscellaneous causes. Obstructive abnormality (42%) was the most common spirometric pattern observed. Higher incidence of cystic BE (57%) was found in our study. Patients > 50 years and males were predominantly affected. Most of the study population had never smoked. Most common symptom found was chronic productive cough and fatigue. Etiology of BE is heterogeneous. Post Tuberculosis BE variety was common. BE in COPD patients was not less common. Central Bronchiectasis was not uncommon.

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Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

Cited by 30 publications

References 79 publications

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

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

Protease–Antiprotease Imbalance in Bronchiectasis

Clinico demographic profile of patients with bronchiectasis – A cross sectional study

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