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

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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Lung ultrasound in the follow-up of primary ciliary dyskinesia

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.1080/14767058.2019.1636027 ◽

2019 ◽

pp. 1-3

Author(s):

Carmina Guitart ◽

Beatriz Del Rey Hurtado de Mendoza ◽

Marta Camprubi Camprubi ◽

Javier Rodriguez-Fanjul

Keyword(s):

Primary Ciliary Dyskinesia ◽

Lung Ultrasound ◽

Ciliary Dyskinesia

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Towards standardized follow-up care for patients with Primary Ciliary Dyskinesia (PCD)

10.1183/1393003.congress-2017.pa1847 ◽

2017 ◽

Author(s):

Myrofora Goutaki ◽

Florian S. Halbeisen ◽

Claire Hogg ◽

Carmen Casaulta ◽

Israel Amirav ◽

...

Keyword(s):

Primary Ciliary Dyskinesia ◽

Follow Up Care ◽

Ciliary Dyskinesia

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Patella Osteomyelitis Mimicking Sinding-Larsen and Johansson Apophysitis: A Pitfall Not to Miss

Case Reports in Orthopedics ◽

10.1155/2020/1780689 ◽

2020 ◽

Vol 2020 ◽

pp. 1-5

Author(s):

Aurélien Traverso ◽

Benjamin Tschopp ◽

Tristan Mekdade ◽

Barbara Kwiatkowski ◽

Nicolas Lutz

Keyword(s):

Pediatric Population ◽

Signs And Symptoms ◽

Acute Osteomyelitis ◽

Imaging Studies ◽

Radiological Findings ◽

Bony Lesion ◽

Main Components ◽

High Level ◽

Specific Symptoms

Background. Diagnosis of bony infection remains difficult during childhood. Osteomyelitis of the patella (OMP) is rare and produces few symptoms and no fever. A high level of suspicion is needed to avoid missing this uncommon type of bone infection. Methods/Results. We report an acute osteomyelitis of the patella treated by joint and patella puncture aspiration followed by antibiotics in a 12-year-old healthy boy. Clinical and radiological findings, orthopedic follow-up, and clinical outcome are presented. Conclusion. Making a diagnosis of acute osteomyelitis of the patella can be challenging especially in the pediatric population, as it produces few specific symptoms with mostly nonspecific biologic anomalies. The paucity in specific signs and symptoms, accompanied by the rare occurrence, often leads to incorrect initial diagnosis, such as overuse injury or apophysitis. Clinical examination with high suspicion for patella infection is key. Radiological exams including MRI are the main components of the adequate imaging studies. Computed tomography may be an excellent addendum to better visualize any bony lesion within the patella. Bone aspiration or biopsy is essential to confirm the diagnosis and offers a first step in the treatment of this infection, which can then be successfully treated with a normal course of antibiotics.

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Patient-generated Digital Images after Pediatric Ambulatory Surgery

Applied Clinical Informatics ◽

10.4338/aci-2015-12-cr-0168 ◽

2016 ◽

Vol 07 (03) ◽

pp. 646-652 ◽

Cited By ~ 2

Author(s):

Rachael Ross ◽

Christina Voight ◽

Heather Brouwer ◽

Dean Karavite ◽

Jeffrey Gerber ◽

...

Keyword(s):

Digital Image ◽

Ad Hoc ◽

Ambulatory Surgery ◽

Digital Images ◽

Antibiotic Prescription ◽

Clinical Care ◽

Surgical Patients ◽

High Level ◽

Pediatric Healthcare

SummaryTo describe the use of digital images captured by parents or guardians and sent to clinicians for assessment of wounds after pediatric ambulatory surgery.Subjects with digital images of post-operative wounds were identified as part of an ongoing cohort study of infections after ambulatory surgery within a large pediatric healthcare system. We performed a structured review of the electronic health record (EHR) to determine how digital images were documented in the EHR and used in clinical care.We identified 166 patients whose parent or guardian reported sending a digital image of the wound to the clinician after surgery. A corresponding digital image was located in the EHR in only 121 of these encounters. A change in clinical management was documented in 20% of these encounters, including referral for in-person evaluation of the wound and antibiotic prescription.Clinical teams have developed ad hoc workflows to use digital images to evaluate post-operative pediatric surgical patients. Because the use of digital images to support follow-up care after ambulatory surgery is likely to increase, it is important that high-quality images are captured and documented appropriately in the EHR to ensure privacy, security, and a high-level of care. Citation: Miller MW; Ross RK; Voight C; Brouwer H; Karavite DJ; Gerber JS; Grundmeier RW; Coffin SE. Patient-generated Digital Images after Pediatric Ambulatory Surgery

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Variation in treatment strategies for the eradication of Pseudomonas aeruginosa in primary ciliary dyskinesia across European centers

Chronic Respiratory Disease ◽

10.1177/1479972318787919 ◽

2018 ◽

Vol 16 ◽

pp. 147997231878791 ◽

Cited By ~ 5

Author(s):

Suzanne Crowley ◽

Mathias Geldermann Holgersen ◽

Kim Gjerum Nielsen

Keyword(s):

Pseudomonas Aeruginosa ◽

Primary Ciliary Dyskinesia ◽

Online Survey ◽

Management Strategies ◽

Treatment Strategies ◽

Clinic Visit ◽

Airway Infection ◽

Colistimethate Sodium ◽

Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare disease causing motile cilia dysfunction, recurrent airway infection, and bronchiectasis. Airway infection management strategies are borrowed from cystic fibrosis. The aim of this study is to describe the management of airway infection with Pseudomonas aeruginosa ( PA) in children and adults with PCD across European centers. An online survey questionnaire was sent electronically using SurveyMonkey® to 55 PCD centers in 36 European countries. Fifty-two responded from 43 centers in 26 countries, a response rate of 70%. Most (89%) countries did not have written guidelines for PCD management. Airway sampling for infection detection at each clinic visit was more likely when follow-up was frequent. Eighty-seven percent of centers chose to treat the first PA isolate, most prescribing combined oral ciprofloxacin and inhaled colistimethate sodium (43%, n = 18). The preferred treatment for chronic infection with PA was nebulized colistimethate in 51% ( n = 22). In summary, considerable variation exists across European centers in the frequency of patient follow-up and airway sampling for infection, treatment goals, and the management of PA infection. Few centers had written guidelines for PCD management. Clinical trials to determine optimal treatment of PA in PCD patients are urgently needed.

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Clinical care of children with primary ciliary dyskinesia

Expert Review of Respiratory Medicine ◽

10.1080/17476348.2017.1360770 ◽

2017 ◽

Vol 11 (10) ◽

pp. 779-790 ◽

Cited By ~ 21

Author(s):

Jane S. Lucas ◽

Mikkel Christian Alanin ◽

Samuel Collins ◽

Amanda Harris ◽

Helle Krogh Johansen ◽

...

Keyword(s):

Primary Ciliary Dyskinesia ◽

Clinical Care ◽

Ciliary Dyskinesia

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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

European Respiratory Journal ◽

10.1183/13993003.01090-2016 ◽

2016 ◽

Vol 49 (1) ◽

pp. 1601090 ◽

Cited By ~ 202

Author(s):

Jane S. Lucas ◽

Angelo Barbato ◽

Samuel A. Collins ◽

Myrofora Goutaki ◽

Laura Behan ◽

...

Keyword(s):

Diagnostic Tests ◽

Primary Ciliary Dyskinesia ◽

High Speed ◽

Task Force ◽

Clinical Care ◽

Beat Frequency ◽

Diagnostic Methods ◽

Future Research ◽

European Respiratory Society ◽

Ciliary Dyskinesia

The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no “gold standard” reference test. Hence, a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing, especially in light of new developments in such tests, and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments. The guideline is based on pre-defined questions relevant for clinical care, a systematic review of the literature, and assessment of the evidence using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach. It focuses on clinical presentation, nasal nitric oxide, analysis of ciliary beat frequency and pattern by high-speed video-microscopy analysis, transmission electron microscopy, genotyping and immunofluorescence. It then used a modified Delphi survey to develop an algorithm for the use of diagnostic tests to definitively confirm and exclude the diagnosis of primary ciliary dyskinesia; and to provide advice when the diagnosis was not conclusive. Finally, this guideline proposes a set of quality criteria for future research on the validity of diagnostic methods for primary ciliary dyskinesia.

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Crazy‐paving patterns as rare radiological manifestations of pulmonary cryptococcosis: a case report

BMC Pulmonary Medicine ◽

10.1186/s12890-021-01450-5 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

He Yu ◽

Kaige Wang ◽

Dong Huang ◽

Lu Wen ◽

Ying Zhang ◽

...

Keyword(s):

Primary Ciliary Dyskinesia ◽

Sequential Therapy ◽

Pulmonary Cryptococcosis ◽

Case Presentation ◽

Fungus Culture ◽

Whole Exome ◽

Bronchoscopic Biopsy ◽

Ciliary Dyskinesia ◽

Radiological Manifestation

Abstract Background Crazy-paving patterns are rarely reported as radiological manifestations of pulmonary cryptococcosis. Case presentation Herein, we presented a very rare case of a crazy-paving pattern as a radiological manifestation of pulmonary cryptococcosis in a patient with primary ciliary dyskinesia. The diagnosis of pulmonary cryptococcosis and primary ciliary dyskinesia was ultimately confirmed by bronchoscopic biopsy, fungus culture, whole exome sequencing of blood, etc. The patient received flucytosine (PO, 5 g per day) and amphotericin B (IV, 70 mg per day) during hospitalization and sequential therapy with voriconazole (PO, 200 mg twice a day) after discharge. He recovered during follow-up. Conclusions We concluded that pulmonary cryptococcosis should be considered a possible cause of crazy-paving patterns in chest CT scans.

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Primary Ciliary Dyskinesia

Seminars in Respiratory and Critical Care Medicine ◽

10.1055/s-0041-1730919 ◽

2021 ◽

Vol 42 (04) ◽

pp. 537-548

Author(s):

Amelia Shoemark ◽

Katharine Harman

Keyword(s):

Primary Ciliary Dyskinesia ◽

Mucociliary Clearance ◽

Controlled Trial ◽

Clinical Care ◽

Clinical Manifestations ◽

Multidisciplinary Care ◽

Multiple Roles ◽

Complex Congenital Heart Disease ◽

Motile Cilia ◽

Ciliary Dyskinesia

AbstractPrimary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. The estimated PCD prevalence in children with bronchiectasis is up to 26% and in adults with bronchiectasis is 1 to 13%. Due to dysfunction of the multiple motile cilia of the respiratory tract patients suffer from poor mucociliary clearance. Clinical manifestations are heterogeneous; however, a typical patient presents with chronic productive cough and rhinosinusitis from early life. Other symptoms reflect the multiple roles of motile cilia in other organs and can include otitis media and hearing loss, infertility, situs inversus, complex congenital heart disease, and more rarely other syndromic features such as hydrocephalus and retinitis pigmentosa. Awareness, identification, and diagnosis of a patient with PCD are important for multidisciplinary care and genetic counseling. Diagnosis can be pursued through a multitest pathway which includes the measurement of nasal nitric oxide, sampling the nasal epithelium to assess ciliary function and structure, and genotyping. Diagnosis is confirmed by the identification of a hallmark ultrastructural defect or pathogenic mutations in one of > 45 PCD causing genes. When a diagnosis is established management is centered around improving mucociliary clearance through physiotherapy and treatment of infection with antibiotics. The first international randomized controlled trial in PCD has recently been conducted showing azithromycin is effective in reducing exacerbations. It is likely that evidence-based PCD-specific management guidelines and therapies will be developed in the near future. This article examines prevalence, clinical features, diagnosis, and management of PCD highlighting recent advances in basic science and clinical care.

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