0000000000171852
AUTHOR
Eva Polverino
Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia
Abstract Introduction Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. Methods This was a multicenter cross-sectional study of patients with a high suspicion of PCD according to European Respiratory Society criteria. We designed a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD. Results We includ…
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN
Primary ciliary dyskinesia; Rare genetic disorder; Lung diseases Discinesia ciliar primaria; Trastorno genético raro; Enfermedades pulmonares Discinesia ciliar primària; Trastorn genètic rar; Malalties pulmonars Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other rare lung diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management is mainly based on expert opinions and treatment is challenging due to a wide range of clinical manifestations and disease severity. To improve clinical and translational research and facili…
Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria
Resumen Introduccion La discinesia ciliar primaria (DCP) es una enfermedad caracterizada por una alteracion en la estructura ciliar que impide el correcto aclaramiento de las secreciones respiratorias. Su diagnostico es complejo y se basa en una combinacion de tecnicas. El objetivo de este estudio fue disenar un panel de genes incluyendo todos los genes causantes conocidos y comprobar su utilidad diagnostica en una cohorte de pacientes espanoles. Metodos Estudio transversal multicentrico de pacientes con sospecha elevada de DCP, aplicando los criterios de la European Respiratory Society. Diseno de un panel de genes para secuenciacion masiva con la tecnologia de captura SeqCap EZ technology,…
Primary ciliary dyskinesia in adults with bronchiectasis: Data from the Embarc registry
Introduction: Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis where defects in motile cilia result in failure to clear mucus. Individuals have life-long productive cough and recurrent infections Methods: The embarc registry is a prospective pan-European observational study of adults with bronchiectasis. Data entered into the registry between March 2015 and Jan 2018 was assessed. Disease severity in PCD was compared to two age and gender matched cohorts, the first consisting of individuals with immune deficiency and a second with idiopathic disease. Results: 287/11204 individuals (2.6%) were reported to have PCD. 65% were female, reflecting the female predominance in…
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspic…
The Importance of Phenotyping Bronchiectasis.
Bronchiectasis is considered to be one of the most heterogeneous respiratory diseases due to both multiple etiological conditions and variable clinical manifestations. This huge heterogeneity is one of the main reasons for disease complexity, and thus, there is a need to identify clinical phenotypes which have specific therapeutic and follow-up indications as in other respiratory diseases [i.e. chronic obstructive pulmonary disease (COPD) or asthma]. Unfortunately, identifying phenotypes of bronchiectasis is not an easy task, and so far, attempts to link aetiology to clinical severity have failed.