Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies

V Mirra, C Werner, F Santamaria - Frontiers in pediatrics, 2017 - frontiersin.org
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive
inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1 …

Primary ciliary dyskinesia

J Lobo, MA Zariwala, PG Noone - Seminars in respiratory and …, 2015 - thieme-connect.com
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure,
function, and biogenesis leading to chronic infections of the respiratory tract, fertility …

Update of respiratory tract disease in children with primary ciliary dyskinesia

SD Sagel, SD Davis, P Campisi… - Proceedings of the …, 2011 - atsjournals.org
Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by abnormal ciliary
structure and function leading to impaired mucociliary clearance and chronic progressive …

Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease

MR Knowles, LA Daniels, SD Davis… - American journal of …, 2013 - atsjournals.org
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile
cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately …

Primary ciliary dyskinesia: current state of the art

A Bush, R Chodhari, N Collins, F Copeland… - Archives of disease in …, 2007 - adc.bmj.com
Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and
presents with upper and lower respiratory tract infection, and mirror image arrangement in …

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 …

Clinical care of children with primary ciliary dyskinesia

JS Lucas, MC Alanin, S Collins, A Harris… - Expert review of …, 2017 - Taylor & Francis
Introduction: Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually
inherited as an autosomal recessive condition but X-linked inheritance is also described …

[PDF][PDF] Primary ciliary dyskinesia

JS Lucas, WT Walker, CE Kuehni… - Orphan Lung Diseases …, 2011 - researchgate.net
KEY MESSAGES centre. Early onset of daily respiratory symptoms is a key feature of PCD.
Patients typically present as neonates with respiratory distress, which may range from mild …

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, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

AJ Shapiro, MA Zariwala, T Ferkol… - Pediatric …, 2016 - Wiley Online Library
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting
in chronic oto‐sino‐pulmonary disease in both children and adults. Many physicians …