New insights in primary ciliary dyskinesia

Reula, Ana; Lucas, J.S.; Moreno‐Galdó, Antonio; Romero, Teresa; Milara, Javier; Cardá, Carmen; Mata‐Roig, Manuel; Escribano, Amparo; Dası́, Francisco; Armengot-Carceller, Miguel

doi:10.1080/21678707.2017.1324780

Cited by 14 publications

(19 citation statements)

References 151 publications

(121 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Bronchiectasis are clinical manifestations that are not present from birth and appear with age [1]. Our cohort of PCD-confirmed patients support this fact, as the mean age of PCD patients with bronchiectasis was 31.2, and for PCD patients without this clinical symptom, the mean age was 15.8.…”

Section: Bronchiectasissupporting

confidence: 76%

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

Armengot-Carceller

Reula

Mata‐Roig

et al. 2020

JCM

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Bronchiectasissupporting

confidence: 76%

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

Armengot-Carceller

Reula

Mata‐Roig

et al. 2020

JCM

Self Cite

View full text Add to dashboard Cite

show abstract

“…PCD is characterised by a malfunction (or absence) of respiratory ciliary activity, preventing proper mucociliary clearance, and thus leading to chronic respiratory infection. 13 , 15 Three principal factors regulate mucociliary clearance: ciliary activity, the composition of mucus and periciliary fluid, and cilia length. 3 , 18 , 23 The ciliary activity has been investigated extensively in PCD patients, and two major populations of PCD patients may be distinguished on this basis; the patients showing ultrastructural defects and those that exhibit normal ciliary ultrastructure but slow (or ineffective) beat activity due to dysfunction of metabolic enzymes involved in ATP or GTP synthesis, mutations in dynein genes such as DNAH11 , or other unexplored factors.…”

Section: Discussionmentioning

confidence: 99%

“… 3 , 18 , 23 The ciliary activity has been investigated extensively in PCD patients, and two major populations of PCD patients may be distinguished on this basis; the patients showing ultrastructural defects and those that exhibit normal ciliary ultrastructure but slow (or ineffective) beat activity due to dysfunction of metabolic enzymes involved in ATP or GTP synthesis, mutations in dynein genes such as DNAH11 , or other unexplored factors. 13 , 26 – 28 …”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

IFT46 Expression in the Nasal Mucosa of Primary Ciliary Dyskinesia Patients: Preliminary Study

Mata

Carda

Milián

et al. 2021

Allergy�Rhinol (Providence)

Self Cite

View full text Add to dashboard Cite

Background Primary ciliary dyskinesia (PCD) is characterised by an imbalance in mucociliary clearance leading to chronic respiratory infections. Cilia length is considered to be a contributing factor in cilia movement. Recently, IFT46 protein has been related to cilia length. Therefore, this work aims to study IFT46 expression in a PCD patients cohort and analyse its relationship with cilia length and function, as it was not previously described. Materials and methods The expression of one intraflagellar transport ( IFT46) and two regulating ciliary architecture ( FOXJ1 and DNAI2) genes, as well as cilia length of 27 PCD patients, were measured. PCD patients were diagnosed based on clinical data, and cilia function and ultrastructure. Gene expression was estimated by real-time RT-PCR and cilia length by electron microscopy in nasal epithelium biopsies. Results and conclusions: While IFT46 expression was only diminished in patients with short cilia, FOXJ1, and DNAI2 expression were reduced in all PCD patient groups compared to controls levels. Among the PCD patients, cilia were short in 44% (5.9 ± 0.70 µm); nine of these (33% from the total) patients’ cilia also had an abnormal ultrastructure. Cilia length was normal in 33% of patients (6.4 ± 0.39 µm), and only three patients’ biopsies indicated decreased expression of dynein.

show abstract

“…Primary ciliary dyskinesia (PCD) is a rare hereditary disorder with autosomal recessive inheritance, characterised by altered or absent ciliary movement, which generates mucociliary clearance deficit [6]. Prevalence is estimated at around 1/10,000 live births [7].…”

Section: Introductionmentioning

confidence: 99%

Knowledge of Rare Respiratory Diseases among Paediatricians and Medical School Students

Requena-Fernández

Dası́

Castillo

et al. 2020

JCM

Self Cite

View full text Add to dashboard Cite

Alpha-1-antitrypsin deficiency (AATD) and primary ciliary dyskinesia (PCD) are underdiagnosed rare diseases showing a median diagnostic delay of five to ten years, which has negative effects on patient prognosis. Lack of awareness and education among healthcare professionals involved in the management of these patients have been suggested as possible causes. Our aim was to assess knowledge of these diseases among paediatricians and medical school students to determine which knowledge areas are most deficient. A survey was designed with questions testing fundamental aspects of the diagnosis and treatment of AATD and PCD. A score equal to or greater than 50% of the maximum score was set as the level necessary to ensure a good knowledge of both diseases. Our results indicate a profound lack of knowledge of rare respiratory diseases among paediatric professionals and medical students, suggesting that it is necessary to increase rare respiratory diseases training among all physicians responsible for suspecting and diagnosing them; this will allow early diagnosis and the setup of preventive measures and appropriate early-stage treatment. The first step in closing this knowledge gap could be to include relevant material in the medical syllabus.

show abstract

New insights in primary ciliary dyskinesia

Cited by 14 publications

References 151 publications

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

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

IFT46 Expression in the Nasal Mucosa of Primary Ciliary Dyskinesia Patients: Preliminary Study

Knowledge of Rare Respiratory Diseases among Paediatricians and Medical School Students

Contact Info

Product

Resources

About