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Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.

Abstract：

RATIONALE:The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined. OBJECTIVES:To delineate clinical features of childhood PCD and their associations with ultrastructural defects and genotype. METHODS:A total of 118 participants younger than 19 years old with PCD were evaluated prospectively at six centers in North America using standardized procedures for diagnostic testing, spirometry, chest computed tomography, respiratory cultures, and clinical phenotyping. MEASUREMENTS AND MAIN RESULTS:Clinical features included neonatal respiratory distress (82%), chronic cough (99%), and chronic nasal congestion (97%). There were no differences in clinical features or respiratory pathogens in subjects with outer dynein arm (ODA) defects (ODA alone; n = 54) and ODA plus inner dynein arm (IDA) defects (ODA + IDA; n = 18) versus subjects with IDA and central apparatus defects with microtubular disorganization (IDA/CA/MTD; n = 40). Median FEV1 was worse in the IDA/CA/MTD group (72% predicted) versus the combined ODA groups (92% predicted; P = 0.003). Median body mass index was lower in the IDA/CA/MTD group (46th percentile) versus the ODA groups (70th percentile; P = 0.003). For all 118 subjects, median number of lobes with bronchiectasis was three and alveolar consolidation was two. However, the 5- to 11-year-old IDA/CA/MTD group had more lobes of bronchiectasis (median, 5; P = 0.0008) and consolidation (median, 3; P = 0.0001) compared with the ODA groups (median, 3 and 2, respectively). Similar findings were observed when limited to participants with biallelic mutations. CONCLUSIONS:Lung disease was heterogeneous across all ultrastructural and genotype groups, but worse in those with IDA/CA/MTD ultrastructural defects, most of whom had biallelic mutations in CCDC39 or CCDC40.

journal_name

Am J Respir Crit Care Med

journal_title

American journal of respiratory and critical care medicine

authors

Davis SD,Ferkol TW,Rosenfeld M,Lee HS,Dell SD,Sagel SD,Milla C,Zariwala MA,Pittman JE,Shapiro AJ,Carson JL,Krischer JP,Hazucha MJ,Cooper ML,Knowles MR,Leigh MW

doi

10.1164/rccm.201409-1672OC

subject

Has Abstract

pub_date

2015-02-01 00:00:00

pages

316-24

issue

eissn

1073-449X

issn

1535-4970

journal_volume

191

pub_type

杂志文章,多中心研究

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Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.