Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Abstract

Rationale: Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of motile cilia, is associated with distinct clinical features. Diagnostic tests, including ultrastructural analysis of cilia, nasal nitric oxide measurements, and molecular testing for mutations in PCD genes, have inherent limitations.Objectives: To define a statistically valid combination of systematically defined clinical features that strongly associates with PCD in children and adolescents.

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

“…(1) The lack of standardized clinical phenotyping, whereby diagnostic decisions are made by a monthly multidisciplinary meeting (an approach that is used in interstitial lung disease for example) (17), using clinical judgment. There are two recently published approaches to define specific criteria for a clinical phenotype that have significant predictive power for a subject having PCD, which could be used in future studies (18,19), although both also have imperfect sensitivity and specificity. (2) The lack of ciliary electron microscopy defects in approximately 30% of patients with PCD (9), and many of these cannot be diagnosed by immunofluorescence.…”

Primary ciliary dyskinesia: the patients grow up

“…This is important given the lack of a gold standard diagnostic test and an evolving understanding of the diversity of the PCD phenotypes. The North American Disorders of Mucociliary Clearance Consortium reported half of the patients initially labelled as "PCD" were de-diagnosed after extensive testing [31]; conversely, we are aware of patients whose investigations had previously "excluded a diagnosis" where that decision has been overturned. In the study described by SHAH et al [1], nNO had been measured in only two-thirds of the patients (64%), although it is a noninvasive and affordable test.…”

Primary Ciliary Dyskinesia

“…In the evaluation of patients with chronic respiratory disease, it is critical to identify phenotypic features that characterize PCD, as compared with other diseases (11, 15). Neonatal respiratory distress is a common feature (> 80%) and a useful marker of PCD (Table 1), particularly for infants or children who have not developed bronchiectasis, and represent special challenge for diagnosis (11, 15, 25, 26).…”

“…Further, many physicians do not appreciate and recognize the key clinical features, particularly in infants and children; however, recent advances in defining the clinical phenotype are likely to increase the level of awareness for PCD (10, 11). Moreover, better definition of genotype/phenotype will also facilitate recognition of the early onset and severity of clinical disease in children with PCD (2, 4, 11, 12). …”

“…This article provides an overview of the rapidly evolving state-of-the-art for PCD, including a focus on the diagnosis and treatment of PCD, and a summary of the progress that promises to revolutionize the identification and treatment of patients with PCD (1-4, 11-15). …”