Article
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
The European respiratory journal - 1 Nov 2022
Shoemark Amelia, Griffin Helen, Wheway Gabrielle, Hogg Claire, Lucas Jane S, Camps Carme, Taylor Jenny, Carroll Mary, Loebinger Michael R, Chalmers James D, Morris-Rosendahl Deborah, Mitchison Hannah M, De Soyza Anthony, Brown D, Ambrose J C, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred C R, Brittain H, Caulfield M J, Chan G C, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard T J P, Jackson R, Jones L J, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh S E A, Leong I U S, Lopez F J, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need A C, O'Donovan P, Odhams C A, Patch C, Perez-Gil D, Pereira M B, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott R H, Siddiq A, Sieghart A, Smith S C, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares A L, Thomas E R A, Thompson S R, Tucci A, Welland M J, Williams E, Witkowska K, Wood S M
Abstract excerpt
BACKGROUND: Bronchiectasis can result from infectious, genetic, immunological and allergic causes. 60-80% of cases are idiopathic, but a well-recognised genetic cause is the motile ciliopathy, primary ciliary dyskinesia (PCD). Diagnosis of PCD has management implications including addressing comorbidities, implementing genetic and fertility counselling and future access to PCD-specific treatments. Diagnostic...
Read the complete abstract on PubMed