Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

Shapiro, Adam J.; Davis, Stephanie D.; Polineni, Deepika; Manion, Michele; Rosenfeld, Margaret; Dell, Sharon D.; Chilvers, Mark; Ferkol, Thomas; Zariwala, Maimoona A.; Sagel, Scott D.; Josephson, Maureen; Morgan, Lucy; Yılmaz, Özge; Olivier, Kenneth N.; Milla, Carlos; Pittman, Jessica E.; Daniels, M. Leigh Anne; Jones, Marcus Herbert; Janahi, Ibrahim; Ware, Stephanie M.; Daniel, Sam J.; Cooper, Matthew; Nogee, Lawrence M.; Anton, Billy; Eastvold, Tori; Ehrne, Lynn; Guadagno, Elena; Knowles, Michael R.; Leigh, Margaret W.; Lavergne, Valéry

doi:10.1164/rccm.201805-0819st

Cited by 320 publications

(425 citation statements)

References 74 publications

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“…We have demonstrated for the first time that a shortened 60 minute PRMCC test is a feasible, safe, and accurate test for diagnosing PCD with excellent sensitivity and negative predictive value. We used a modern reference standard diagnosis for PCD based on widely available clinical tests (cilia TEM, genetics, and nasal nitric oxide) and sensitivity analyses removing the nasal nitric oxide criteria did not change the results. Ciliary ultrastructural analysis by TEM is normal or nondiagnostic in 30% to 50% of patients with PCD and current genetic testing detects only 65% to 70% of PCD cases .…”

Section: Discussionmentioning

confidence: 99%

“…Two expert physicians, blinded to the PRMCC test result used the abstracted case report forms to independently categorize each patient's reference standard diagnosis to PCD, not PCD or indeterminate. PCD was diagnosed in patients having a clinical PCD phenotype and at least one positive of three possible confirmatory diagnostic test results: a hallmark ciliary ultrastructural defect (either outer dynein arm or outer+inner dynein arm or inner dynein arm with microtubular disorganization), or biallelic pathogenic variants in a PCD‐causing gene, or a low nasal nitric oxide concentration (<77 nL/min measured by chemiluminescence device with a standardized protocol on at least two occasions). Indeterminate PCD was diagnosed when a clinical phenotype strongly suggested PCD, but confirmatory diagnostic tests for PCD were negative.…”

Section: Methodsmentioning

confidence: 99%

“…Clinical manifestations of PCD overlap with other common conditions, hence diagnosis is often delayed and associated with significant stress and burden of health care resources . Modern guidelines for the diagnosis of PCD stress that there is no single gold standard test for diagnosing PCD . A diagnostic algorithm, developed by an international Delphi survey‐based consensus process, states that the pulmonary radioaerosol mucociliary clearance (PRMCC) test should be considered for patients suspected to have PCD in whom first‐line tests are nondiagnostic …”

Section: Introductionmentioning

confidence: 99%

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Evaluation of the pulmonary radioaerosol mucociliary clearance scan as an adjunctive test for the diagnosis of primary ciliary dyskinesia in children

Vali

Ghandourah

Charron³

et al. 2019

Pediatric Pulmonology

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Introduction The accuracy of primary ciliary dyskinesia (PCD) diagnosis has improved but no single test is diagnostic and some cases remain unsolved. Data regarding the accuracy of pulmonary radioaerosol mucociliary clearance scan (PRMCC) for the diagnosis of PCD are limited to predominantly adults using a 24‐hour test. This study was performed to determine the accuracy of a 60‐minute PRMCC test for diagnosing PCD in children. Methods Children with suspected PCD and inconclusive clinical diagnostic testing in an expert center were selected for PRMCC testing. Nebulized 99mTc sulfur colloid was inhaled and dynamic imaging acquired for 60 to 120 minutes. Two independent radiologists blinded to the clinical diagnosis and health records overread PRMCC studies. The PRMCC result was compared with the reference standard diagnosis of PCD made by two physicians using the cumulative health record, blinded to PRMCC results. Results From 2008 to 2018, 57 patients (6‐17 years) participated, of which 16 met criteria for the reference diagnosis of PCD. The PRMCC test was conclusive in 54 patients (94.7%) and had a sensitivity of 100% (95% confidence interval [CI] = 78.2–100), specificity of 85.7% (95% CI = 69.7–95.2), positive predictive value of 75% (95% CI = 57.1–87.1), negative predictive value of 100% (95% CI = 90.2–100), and accuracy of 90% (95% CI = 78.2–96.7). Conclusion The 60‐minute PRMCC test is noninvasive and feasible in children with a high negative predictive value for PCD. It may be a helpful adjunctive test to rule out PCD when clinical suspicion remains after guideline recommended first‐line clinical testing.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Evaluation of the pulmonary radioaerosol mucociliary clearance scan as an adjunctive test for the diagnosis of primary ciliary dyskinesia in children

Vali

Ghandourah

Charron³

et al. 2019

Pediatric Pulmonology

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“…Studies have repeatedly confirmed that presence of situs—or absence of it—are among the major reasons for early or delayed diagnosis . Moreover, laterality disorders are an essential clinical feature, which highly suggests the presence of PCD . Thus, the importance of detecting situs abnormalities as part of the diagnostic workup for PCD.…”

Section: Discussionmentioning

confidence: 99%

Is it the “right” side?

Amirav

Bozic

Cohn

2019

Pediatric Pulmonology

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“…If there is a concern about recurrent lung infections with GI symptoms, screening tests such as a sweat test and fecal elastase may suggest cystic fibrosis as an etiology. Furthermore, if sino-pulmonary infections are present, then nasal nitric oxide testing and video microscopy may help screen for primary ciliary dyskinesia (19). …”

Section: Pediatric Pulmonologist Perspectivementioning

confidence: 99%

Aerodigestive Approach to Chronic Cough in Children

Naime

Batra

Fiorillo

et al. 2018

Curr Treat Options Peds

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Purpose of review: Chronic cough is the most common presenting complaint in a pediatric aerodigestive clinic. The etiology of chronic cough is varied and often includes more than one organ system. This review aims to summarize the current literature for a multidisciplinary approach when evaluating a child with chronic cough. Recent findings: There is very little medical literature focused on a multidisciplinary approach to chronic cough. In the limited data available, multidisciplinary clinics have been shown to be more cost-efficient for the families of children with complex medical problems, and also increase the likelihood of successfully obtaining a diagnosis. Summary: There is no consensus in the literature on how to work-up a child with chronic cough presenting to an aerodigestive clinic. Current studies from these clinics have shown improved outcomes related to cost-effectiveness and identifying definitive diagnoses. Future studies evaluating clinical outcomes are necessary to help delineate the utility of testing routinely performed, and to demonstrate the impact of interventions from each specialty on quality of life and specific functional outcome measures.

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Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

Abstract: The panel formulated and provided a rationale for the direction as well as for the strength of each recommendation to establish the diagnosis of PCD.

Cited by 320 publications

References 74 publications

Evaluation of the pulmonary radioaerosol mucociliary clearance scan as an adjunctive test for the diagnosis of primary ciliary dyskinesia in children

Evaluation of the pulmonary radioaerosol mucociliary clearance scan as an adjunctive test for the diagnosis of primary ciliary dyskinesia in children

Is it the “right” side?

Aerodigestive Approach to Chronic Cough in Children

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