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Diagnosis and management of primary ciliary dyskinesia.

Werner C, Onnebrink JG, Omran H - Cilia (2015)

Bottom Line: Early referral to specialized centers that use a multidisciplinary approach is likely to improve outcomes.Currently, evidence-based knowledge on PCD care is missing let alone management guidelines.Research and clinical investigators, supported by European and North American patient support groups, have joined forces under the name of BESTCILIA, a European Commission funded consortium dedicated to improve PCD care and knowledge.

View Article: PubMed Central - PubMed

Affiliation: Department of General Pediatrics, Pediatric Pulmonology Unit, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Geb. A1, D-48149 Münster, Germany.

ABSTRACT
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder with defective structure and/or function of motile cilia/flagella, causing chronic upper and lower respiratory tract infections, fertility problems, and disorders of organ laterality. Diagnosing PCD requires a combined approach utilizing characteristic phenotypes and complementary methods for detection of defects of ciliary function and ultrastructure, measurement of nasal nitric oxide and genetic testing. Currently, biallelic mutations in 31 different genes have been linked to PCD allowing a genetic diagnosis in approximately ~ 60% of cases. Management includes surveillance of pulmonary function, imaging, and microbiology of upper and lower airways in addition to daily airway clearance and prompt antibiotic treatment of infections. Early referral to specialized centers that use a multidisciplinary approach is likely to improve outcomes. Currently, evidence-based knowledge on PCD care is missing let alone management guidelines. Research and clinical investigators, supported by European and North American patient support groups, have joined forces under the name of BESTCILIA, a European Commission funded consortium dedicated to improve PCD care and knowledge. Core programs of this network include the establishment of an international PCD registry, the generation of disease specific PCD quality of life questionnaires, and the first randomized controlled trial in PCD.

No MeSH data available.


Related in: MedlinePlus

Clinical features of primary ciliary dyskinesia. (A) Coronal computed tomography (CT) scan of a 17-year-old PCD individual showing diffuse pansinusitis with mucosal thickening and polyposis. (B) Endoscopic view showing nasal polyp (same patient). (C) Chest X-ray of a 6-year-old PCD individual with middle lobe atelectasis. Silhouetting of the right heart border is present. (D) Chest CT of a 6-year-old individual with situs inversus totalis. The left-sided middle lobe shows extensive bronchiectasis with volume loss (white arrow). In addition, consolidations and mucous impaction are present in the right upper lobe.
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Fig2: Clinical features of primary ciliary dyskinesia. (A) Coronal computed tomography (CT) scan of a 17-year-old PCD individual showing diffuse pansinusitis with mucosal thickening and polyposis. (B) Endoscopic view showing nasal polyp (same patient). (C) Chest X-ray of a 6-year-old PCD individual with middle lobe atelectasis. Silhouetting of the right heart border is present. (D) Chest CT of a 6-year-old individual with situs inversus totalis. The left-sided middle lobe shows extensive bronchiectasis with volume loss (white arrow). In addition, consolidations and mucous impaction are present in the right upper lobe.

Mentions: Up to 85% of individuals with PCD have a history of unexplained neonatal respiratory distress [15]. Symptoms comprise mild transient tachypnoea, atelectasis, and can advance to respiratory failure requiring ventilatory support. Directly after birth, neonates with PCD present with persistent rhinitis or a blocked nose leading to feeding difficulties. Chronic rhinosinusitis develops in childhood and lasts through adulthood (Figure 2). Already during infancy, conductive hearing loss frequently occurs due to middle ear effusion that may progress to glue ear. Infants typically develop daily wet cough and recurrent upper and lower airways infections. Although a life-long symptom, patients often do not report cough as under-recognition due to adaptation to this ever-present symptom or cough suppression due to embarrassment are common. Consolidation, atelectasis, and bronchiectasis are constant findings in adults but may be present already in infancy (Figure 2) [15]. Typically, the middle and lingula lobes of the lung are affected predominantly followed by the lower lobes. Involvement of the upper lobes usually occurs at a later disease stage [16].Figure 2


Diagnosis and management of primary ciliary dyskinesia.

Werner C, Onnebrink JG, Omran H - Cilia (2015)

Clinical features of primary ciliary dyskinesia. (A) Coronal computed tomography (CT) scan of a 17-year-old PCD individual showing diffuse pansinusitis with mucosal thickening and polyposis. (B) Endoscopic view showing nasal polyp (same patient). (C) Chest X-ray of a 6-year-old PCD individual with middle lobe atelectasis. Silhouetting of the right heart border is present. (D) Chest CT of a 6-year-old individual with situs inversus totalis. The left-sided middle lobe shows extensive bronchiectasis with volume loss (white arrow). In addition, consolidations and mucous impaction are present in the right upper lobe.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4300728&req=5

Fig2: Clinical features of primary ciliary dyskinesia. (A) Coronal computed tomography (CT) scan of a 17-year-old PCD individual showing diffuse pansinusitis with mucosal thickening and polyposis. (B) Endoscopic view showing nasal polyp (same patient). (C) Chest X-ray of a 6-year-old PCD individual with middle lobe atelectasis. Silhouetting of the right heart border is present. (D) Chest CT of a 6-year-old individual with situs inversus totalis. The left-sided middle lobe shows extensive bronchiectasis with volume loss (white arrow). In addition, consolidations and mucous impaction are present in the right upper lobe.
Mentions: Up to 85% of individuals with PCD have a history of unexplained neonatal respiratory distress [15]. Symptoms comprise mild transient tachypnoea, atelectasis, and can advance to respiratory failure requiring ventilatory support. Directly after birth, neonates with PCD present with persistent rhinitis or a blocked nose leading to feeding difficulties. Chronic rhinosinusitis develops in childhood and lasts through adulthood (Figure 2). Already during infancy, conductive hearing loss frequently occurs due to middle ear effusion that may progress to glue ear. Infants typically develop daily wet cough and recurrent upper and lower airways infections. Although a life-long symptom, patients often do not report cough as under-recognition due to adaptation to this ever-present symptom or cough suppression due to embarrassment are common. Consolidation, atelectasis, and bronchiectasis are constant findings in adults but may be present already in infancy (Figure 2) [15]. Typically, the middle and lingula lobes of the lung are affected predominantly followed by the lower lobes. Involvement of the upper lobes usually occurs at a later disease stage [16].Figure 2

Bottom Line: Early referral to specialized centers that use a multidisciplinary approach is likely to improve outcomes.Currently, evidence-based knowledge on PCD care is missing let alone management guidelines.Research and clinical investigators, supported by European and North American patient support groups, have joined forces under the name of BESTCILIA, a European Commission funded consortium dedicated to improve PCD care and knowledge.

View Article: PubMed Central - PubMed

Affiliation: Department of General Pediatrics, Pediatric Pulmonology Unit, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Geb. A1, D-48149 Münster, Germany.

ABSTRACT
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder with defective structure and/or function of motile cilia/flagella, causing chronic upper and lower respiratory tract infections, fertility problems, and disorders of organ laterality. Diagnosing PCD requires a combined approach utilizing characteristic phenotypes and complementary methods for detection of defects of ciliary function and ultrastructure, measurement of nasal nitric oxide and genetic testing. Currently, biallelic mutations in 31 different genes have been linked to PCD allowing a genetic diagnosis in approximately ~ 60% of cases. Management includes surveillance of pulmonary function, imaging, and microbiology of upper and lower airways in addition to daily airway clearance and prompt antibiotic treatment of infections. Early referral to specialized centers that use a multidisciplinary approach is likely to improve outcomes. Currently, evidence-based knowledge on PCD care is missing let alone management guidelines. Research and clinical investigators, supported by European and North American patient support groups, have joined forces under the name of BESTCILIA, a European Commission funded consortium dedicated to improve PCD care and knowledge. Core programs of this network include the establishment of an international PCD registry, the generation of disease specific PCD quality of life questionnaires, and the first randomized controlled trial in PCD.

No MeSH data available.


Related in: MedlinePlus