Boon M, Smits A, Cuppens H, Jaspers M, Proesmans M, Dupont LJ, Vermeulen FL, Van Daele S, Malfroot A, Godding V, Jorissen M, De Boeck K (2014) Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. ...
Secondary ciliary dyskinesia may be seen in diseases associated with acute and chronic airway inflammation and infection. This review will focus primarily on PCD, the genetically transmitted form of the disease, with a brief review of the structure and function of normal and dysfunctional cilia, ...
Primary Ciliary DyskinesiaJason Lobo, MD [Assistant Professor of Medicine], Maimoona A Zariwala, PhD [Associate Professor of Medicine and Laboratory Medicine], and Peadar G Noone, MD, FCCP, FRCPI [Professor of Medicine]The Division of Pulmonary Diseases, University of North Carolina Chapel Hill,...
Symptoms highly suggestive of PCD in adults: PCD = primary ciliary dyskinesia. a Bronchiectasis in PCD shows a predominance for middle- and lower-lobe involvement. Approximately 80% of children with PCD have a history of neonatal respiratory distress at term birth,14,16 but this prevalence decreas...
The main symptoms of primary ciliary dyskinesia (PCD) are nasal rhinorrhea or blockage and moist-sounding cough. Diagnosis can be difficult and is based on... MA Chilvers,A Rutman,C O'Callaghan - 《Journal of Allergy & Clinical Immunology》 被引量: 508发表: 2003年 Clinical and genetic asp...
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure and function, leading to chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. Making a definitive diagnosis is challenging, utilizing characteristic phenotypes, ciliary ...
Primary ciliary dyskinesia (PCD) is a rare disorder that affects the biogenesis or function of motile cilia resulting in chronic airway disease. PCD is genetically and phenotypically heterogeneous, with causative mutations identified in over 40 genes; however, the genetic basis of many cases is ...
Introduction Primary ciliary dyskinesia (PCD) is a rare, inherited disease that occurs when pathogenic variants in disease-causing genes affect ciliary structure or function.1 Motile ciliary dysfunction results in a wide range of symptoms from different organ systems.2-5 Although the cli...
Siewert first described the combination of situs inversus, chronic sinusitis, and bronchiectasis in 1904. However, Manes Kartagener first recognized this clinical triad as a distinct congenital syndrome in 1933.
Primary ciliary dyskinesia, characterized by chronic airway infection, impaired fertility, and situs inversus in half the number of cases, was detected in a 58-year-old Japanese woman, along with carcinoma of the transverse colon. She was of complete situs inversus and subfertile and had ...