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Primary Ciliary Dyskinesia
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DOI：10.1542/peds.2023-063064.png)
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摘要
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Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by dysfunctional motile cilia and abnormal mucociliary clearance, resulting in chronic sino-oto-pulmonary disease, neonatal respiratory distress, subfertility, and organ laterality defects. Over the past 2 decades, research and international collaborations have led to an improved understanding of disease prevalence, classic and variable phenotypes, novel diagnostics, genotype-phenotype correlations, long term morbidity, and innovative therapeutics. However, PCD is often underrecognized in clinical settings and the recent analyses of genetic databases suggest that only a fraction of these patients are being accurately diagnosed. Knowledge of significant advancements, from pathophysiology to the expanded range of clinical manifestations, will have important clinical impacts. These may include increasing disease recognition, improving diagnostic testing and management, and establishing an adequate pool of affected patients to enroll in upcoming clinical therapeutic trials. The objective of this state-of-the-art review is for readers to gain a greater understanding of the clinical spectrum of motile ciliopathies, cutting-edge diagnostic practices, emerging genotype-phenotype associations, and currently accepted management of people with PCD.
Keyword:
QUALITY-OF-LIFE
IMMUNIZATION PRACTICES
ULTRASTRUCTURE DEFECT
ADVISORY-COMMITTEE
UNITED-STATES
MUTATIONS
DIAGNOSIS
DISEASE
RECOMMENDATIONS
CHILDREN
期刊
IF:
6.4
论文数:
2.4W
被引数:
7.8W
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引用论文
Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.png)
PEDIATRIC RESEARCH
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PEDIATRIC RESEARCHIF3.1
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