Primary Ciliary Dyskinesia

被引：143

作者：

Knowles, Michael R. ^{[1
]}

Zariwala, Maimoona ^{[2
]}

Leigh, Margaret ^{[3
]}

机构：

[1] Univ N Carolina, Marsico Lung Inst, Dept Med, UNC CF Res Ctr,Sch Med, Chapel Hill, NC 27599 USA

[2] Univ N Carolina, Marsico Lung Inst, Dept Pathol & Lab Med, UNC CF Res Ctr,Sch Med, Chapel Hill, NC 27599 USA

[3] Univ N Carolina, Marsico Lung Inst, Dept Pediat, UNC CF Res Ctr,Sch Med, Chapel Hill, NC 27599 USA

来源：

CLINICS IN CHEST MEDICINE | 2016年 / 37卷 / 03期

基金：

美国国家卫生研究院;

关键词：

Primary ciliary dyskinesia; Kartagener syndrome; Nasal nitric oxide; Genetic testing; CONGENITAL HEART-DISEASE; CYSTIC FIBROSIS BRONCHIECTASIS; NASAL NITRIC-OXIDE; MUCOCILIARY CLEARANCE DISORDER; SITUS-INVERSUS TOTALIS; MULTIPLE MOTILE CILIA; LEFT-RIGHT ASYMMETRY; QUALITY-OF-LIFE; LUNG-DISEASE; BEAT PATTERN;

D O I：

10.1016/j.ccm.2016.04.008

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in similar to 50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement of nasal nitric oxide and genetic testing has allowed rigorous diagnoses and determination of a robust clinical phenotype, which includes neonatal respiratory distress, daily nasal congestion, and wet cough starting early in life, along with organ laterality defects. There is early onset of lung disease in PCD with abnormal airflow mechanics and radiographic abnormalities detected in infancy and early childhood.

引用

页码：449 / +

页数：14

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