Otologic Features in Children With Primary Ciliary Dyskinesia

Prulière-Escabasse, V.; Coste, A.; Chauvin, Pierre; Fauroux, Brigitte; Tamalet, Aline; Garabédian, Éréa-Noël; Escudier, Estelle; Roger, Gilles

doi:10.1001/archoto.2010.183

Cited by 90 publications

(76 citation statements)

References 18 publications

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“…Advocates of tympanostomy (ventilation) tubes suggest that hearing may be improved (long term) in some patients, and otorrhea can be controlled (97). In contrast, the European Respiratory Society Consensus Statement recommends against placement of tubes for chronic otitis media in patients with PCD, because resultant otorrhea is a problem, and spontaneous resolution of chronic otitis media may occur in the teenage years (3,98). Episodes of otitis media should be treated by standard approaches, but data are not available to address the question of surgical intervention.…”

Section: Management Of Otolaryngologic Manifestations Middle Ear Diseasementioning

confidence: 99%

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Knowles¹,

Daniels²,

Davis

et al. 2013

Am J Respir Crit Care Med

440

460

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Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately 50% of cases. The estimated incidence of PCD is approximately 1 per 15,000 births, but the prevalence of PCD is difficult to determine, primarily because of limitations in diagnostic methods that focus on testing ciliary ultrastructure and function. Diagnostic capabilities have recently benefitted from (1) documentation of low nasal nitric oxide production in PCD and (2) discovery of biallelic mutations in multiple PCD-causing genes. The use of these complementary diagnostic approaches shows that at least 30% of patients with PCD have normal ciliary ultrastructure. More accurate identification of patients with PCD has also allowed definition of a strong clinical phenotype, which includes neonatal respiratory distress in .80% of cases, daily nasal congestion and wet cough starting soon after birth, and early development of recurrent/chronic middle-ear and sinus disease. Recent studies, using advanced imaging and pulmonary physiologic assessments, clearly demonstrate early onset of lung disease in PCD, with abnormal air flow mechanics by age 6-8 years that is similar to cystic fibrosis, and age-dependent onset of bronchiectasis. The treatment of PCD is not standardized, and there are no validated PCD-specific therapies. Most patients with PCD receive suboptimal management, which should include airway clearance, regular surveillance of pulmonary function and respiratory microbiology, and use of antibiotics targeted to pathogens. The PCD Foundation is developing a network of clinical centers, which should improve diagnosis and management of PCD.

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Section: Management Of Otolaryngologic Manifestations Middle Ear Diseasementioning

confidence: 99%

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Knowles¹,

Daniels²,

Davis

et al. 2013

Am J Respir Crit Care Med

440

460

View full text Add to dashboard Cite

show abstract

“…Almost all patients with PCD will experience at least 1 episode of otitis media by the age of 5 years with reoccurrences by the age of 17 years. Without findings of otitis media, the physician should doubt the diagnosis of CF rather than PCD [14]. Variable manifestations of auditory tract infections with chronic secretory otitis media, middle ear fluid, tympanic membrane perforation and otorrhea which may persist in PCD are not found in CF patients.…”

Section: Discussionmentioning

confidence: 99%

“…Surgical tympanostomy tubes were inserted because of hearing loss due to effusions in middle ear. Tympanostomy in PCD patients should be performed according to a cost beneficial assessment on the degree of hearing loss and the outcomes such as otorrhea and tympanic membrane perforation [14]. Infertility, as a complication of PCD due to flagella defects and immotility of sperms is more prominent in males.…”

Section: Discussionmentioning

confidence: 99%

Primary Ciliary Dyskinesia in Six Patients with Bronchiectasis

Modaresi

Sadeghi

Mohammadinejad

et al. 2016

Advances in Respiratory Medicine

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Introduction: Primary ciliary dyskinesia [PCD] is generally considered as a rare autosomal recessive disorder. Previous studies reported various prevalence of PCD among patients with bronchiectasis. Material and methods: Six PCD patients who were diagnosed during the investigation of 40 patients with bronchiectasis were enrolled in this study. Ultra structural studies for both epithelium and cilia were performed, and the deformities in detailed electron microscopic images confirmed the diagnosis of PCD. Results: Four patients experienced the first symptoms shortly after the birth, 1 by the age of 1 and 1 by the age of 4 years. Except of 1 case that was diagnosed 2 months after the onset of disease, diagnosis delay was longer than 5 years in all patients. Consanguineous marriage was observed in the parents of all patients. Upper respiratory tract infections were documented for all patients. Conclusions: PCD should be considered as a probable underlying disorder in patients with bronchiectasis. Past medical history of otitis media and history of similar clinical findings in family members should raise suspicion toward PCD.

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“…However, a direct comparison between management strategies was not possible as patients with worse baseline hearing thresholds systematically received surgical intervention. PRULIÈRE-ESCABASSE et al [72] observed a decrease in acute otitis media and an increase in chronic otitis media with age. Persistent otitis media with effusion was prevalent (over 80%) throughout all age groups.…”

Section: Upper Airway Managementmentioning

confidence: 96%

Clinical care for primary ciliary dyskinesia: current challenges and future directions

Rubbo

Lucas

2017

Eur Respir Rev

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Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.

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Otologic Features in Children With Primary Ciliary Dyskinesia

Abstract: Despite continuous antibiotic therapy, the middle ear condition in PCD remained severe throughout childhood, with improvement only after age 18 years. Armstrong grommet placement did not improve the middle ear condition. Central complex defect is a marker of severity.

Cited by 90 publications

References 18 publications

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Primary Ciliary Dyskinesia in Six Patients with Bronchiectasis

Clinical care for primary ciliary dyskinesia: current challenges and future directions

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