Diagnosis

PCDF Research Forum #6: Genotype/Phenotype Relationships in PCD

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype Stephanie D. Davis et al. Link to study abstract Understanding and identifying the relationship between genotype (gene mutation) and phenotype (observable clinical traits) will be critical for advancing treatment of PCD. This paper by Davis, et al

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Hot off the Presses , the ATS Clinical Practice Guideline for the Diagnosis of PCD is now (freely) available at the American Thoracic Society website!

Using rigorous evidence-based analysis, this document provides an overview of available information related to best practices for diagnosing PCD and addresses some of the challenges and misinformation currently confronting clinicians and patients in their PCD diagnostic journey. Enjoy! Please note, this is located in the ‘pediatric’ section of the ATS

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