ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis

A Shoemark, S Dell, A Shapiro… - European Respiratory …, 2019 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease,
usually inherited in an autosomal recessive pattern. Patients with PCD develop recurrent …

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia: a guideline review

RA Dalrymple, P Kenia - Archives of Disease in Childhood-Education …, 2018 - ep.bmj.com
Primary ciliary dyskinesia (PCD) is a rare genetic condition with a prevalence of1: 10 000-20
000 live births. 1 The prevalence is higher in certain ethnic groups due to consanguineous …

Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report

CE Kuehni, JS Lucas - Breathe, 2017 - Eur Respiratory Soc
Key points Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous
disease characterised by abnormal motile ciliary function. There is no “gold standard” …

Diagnosing primary ciliary dyskinesia: an international patient perspective

L Behan, AD Galvin, B Rubbo… - European …, 2016 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sino-
pulmonary disease, with symptoms starting soon after birth. A European Respiratory Society …

Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia

J Frija-Masson, L Bassinet, I Honoré, N Dufeu… - Thorax, 2017 - thorax.bmj.com
Introduction Primary ciliary dyskinesia (PCD) is a genetic disease characterised by
abnormalities in ciliary function, responsible for chronic pulmonary and sinonasal diseases …

Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it

C Hogg - Paediatric respiratory reviews, 2009 - Elsevier
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive condition. The signs and
symptoms are due to congenital abnormalities of ciliary structure and function, resulting in …

Genetic testing in the diagnosis of primary ciliary dyskinesia: state-of-the-art and future perspectives

SA Collins, WT Walker, JS Lucas - Journal of clinical medicine, 2014 - mdpi.com
Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive condition affecting
around 1: 15,000. In people with PCD, microscopic motile cilia do not move normally …

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

A Barbato, T Frischer, CE Kuehni… - European …, 2009 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function,
which results in retention of mucus and bacteria in the respiratory tract, leading to chronic …

Primary ciliary dyskinesia: diagnosis and standards of care

A Bush, P Cole, M Hariri, I Mackay… - European …, 1998 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is characterized by disease of the upper and lower
respiratory tract, in association with visceral mirror image arrangement in 50% of cases, due …

Diagnosis and management of primary ciliary dyskinesia

JS Lucas, A Burgess, HM Mitchison, E Moya… - Archives of disease in …, 2014 - adc.bmj.com
Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia
characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility …