Is Resection of Bronchiectasis Beneficial in Patients With Primary Ciliary Dyskinesia?

doi:10.1378/chest.109.6.1541

Chest

Volume 109, Issue 6, June 1996, Pages 1541-1544

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A retrospective study of 21 patients with primary ciliary dyskinesia (PCD) was done. Thirteen had prior resection of bronchiectasis and eight had not. Information about present complaints was obtained by a questionnaire. The prevalence of present respiratory symptoms was the same in both groups. The surgical patients had more severe disease and 85% of them considered the operation beneficial. Selected patients with PCD may have improved conditions with resection of bronchiectasis.

Section snippets

MATERIALS AND METHODS

Between 1952 and 1994, altogether 26 patients with PCD were seen in the two participating hospitals. Complete records of 24 patients were available for retrospective analysis. Three patients could not be interviewed by telephone because of language barrier, psychiatric problems, and living abroad. One of them underwent resection of bronchiectasis. Twenty-one patients gave written informed consent to be interviewed by telephone; they form the basis of this study. The diagnosis was based on the

RESULTS

Twenty-one patients could be evaluated, 13 with and 8 without resection. Their characteristics are shown in Table 1. Both groups are comparable regarding gender, age, smoking habits, pulmonary function, and histamine threshold. The VC and FEV₁ as percentage of predicted normal values of the operated-on patients are slightly smaller, but the predicted values¹² are not corrected for resected segments.

The difference in the year of diagnosis of the patients with resection (1965) and those without

DISCUSSION

The prevalence of present respiratory complaints and fitness for work is the same in patients who had a resection of bronchiectatic segments and those without an operation. The beneficial influence of resection is therefore not apparent. It seems possible, however, that the surgical patients had more serious complaints before the operation because they had more severe and also more bilateral bronchiectasis. This cannot be proved in a retrospective study. The younger age at diagnosis in the

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Cited by (29)

Primary Ciliary Dyskinesia
2016, Clinics in Chest Medicine
Citation Excerpt :
Resection of severely affected lung in PCD is occasionally useful, but should be undertaken only after careful consideration and consultation with PCD experts, because PCD affects all regions of the lung. The selection of patients for resection should focus on those with severe localized bronchiectasis and recurrent febrile relapses or severe hemoptysis, despite aggressive medical management.84 Patients with end-stage PCD lung disease are candidates for lung transplant, and a modest number of transplants have been successfully performed.
Treatment recommendations in Primary Ciliary Dyskinesia
2016, Paediatric Respiratory Reviews
Citation Excerpt :
Resection (i.e., segmentectomy or lobectomy) may be considered using caution, when a disproportionately burdened region of the lung has failed medical management of bronchiectasis and there is a decline in the patient's health. One case series in patients with PCD has described low peri-operative mortality associated with surgical resection, and 85% of surgically treated patients reported improved post-operative symptoms [51]. A second, and recent, retrospective study of 30 patients with PCD identified 5 lobectomised cases in comparison with 7 non-lobectomised cases, with age greater than 18 years.
Primary Ciliary Dyskinesia (PCD) is a rare heterogenic disorder leading to significant respiratory morbidity. Health-care providers who treat PCD must familiarize themselves with recommended treatment strategies. However, most of the treatments recommended in PCD have been extrapolated from cystic fibrosis (CF) and non-CF bronchiectasis literature. Mainstays of therapy are reviewed in detail, and should include at a minimum: regular airway clearance, routine microbiological surveillance, antibiotic treatment for pulmonary exacerbation, and health vaccinations. This review summarizes both medical and surgical pulmonary treatment considerations, as well as recommendations for the integration of non-pulmonary subspecialty care in the management of PCD.
Primary ciliary dyskinesia in adults
2016, Revue des Maladies Respiratoires
Citation Excerpt :
Il est recommandé de s’assurer de l’absence de mycobactérie atypique avant mise sous macrolide et de tenir compte des effets secondaires (allongement de l’espace QT, troubles digestifs et risques d’hypoacousie) [134]. Beaucoup utilisée il y a quelques années (près de 40 % des patients pris en charge ces vingt dernières années avaient des antécédents de lobectomie), les traitements chirurgicaux pulmonaires (type lobectomie réglée) doivent rester exceptionnels [135] dans le but de préserver la fonction respiratoire et de ne pas compliquer une éventuelle transplantation pulmonaire à distance. Une chirurgie ne doit être évoquée que dans certains cas (par exemple suppuration chronique sévère avec un foyer limité, hémoptysie massive non contrôlée par un traitement médical) et après un avis spécialisé et une discussion multidisciplinaire.
Primary ciliary dyskinesia is an autosomal recessive genetic disorder leading to structural and/or functional abnormalities of motor cilia. Impaired mucociliary clearance is responsible for the development of a multi-organ disease, which particularly affects the upper and lower airways.
In adults, primary ciliary dyskinesia is mainly characterized by bronchiectasis and chronic ear and sinus disorders. Situs inversus is found in half of patients and fertility disorders are commonly associated. Diagnosis is based on specialized tests: reduced level of nasal nitric oxide concentrations is suggestive of primary ciliary dyskinesia, but only a nasal or bronchial biopsy/brushing with analysis of beat pattern by videomicroscopy and/or analysis of cilia morphology by electronic microscopy can confirm the diagnosis. However, the diagnosis is difficult to achieve due to the limited access to these specialized tests and to difficulties in interpreting them. Genetic tests are under development and may provide new diagnostic tools. Treatment is symptomatic, based on airway clearance techniques (e.g., physiotherapy) and systemic and/or inhaled antibiotics. Prognosis is related to the severity of the respiratory impairment, which can be moderate or severe.
Diagnosis and management of primary ciliary dyskinesia remain poorly defined and should be supported by specialized centers to standardize the diagnosis, improve the treatment and promote research.
La dyskinésie ciliaire primitive est une maladie génétique autosomique récessive, à l’origine d’anomalies structurales et fonctionnelles des cils moteurs. Les altérations de la clairance mucociliaire sont responsables d’une atteinte multi-organes prédominant sur les voies aériennes supérieures et inférieures.
L’atteinte clinique est marquée chez l’adulte par des dilatations des bronches et une atteinte oto-sinusienne chronique. Un situs inversus est présent dans la moitié des cas et les troubles de la fertilité sont fréquents. Le diagnostic repose sur des tests spécialisés : un effondrement du monoxyde d’azote nasal est évocateur mais seuls un prélèvement de l’épithélium nasal ou bronchique pour une étude du battement ciliaire et une analyse en microscopie électronique permettent un diagnostic de certitude. Des tests génétiques sont en développement et pourraient favoriser le diagnostic dans les prochaines années. Le traitement est symptomatique, fondé sur la kinésithérapie respiratoire et l’antibiothérapie par voie systémique et/ou inhalée. Le pronostic est lié à l’atteinte respiratoire qui peut être modérée ou sévère.
La prise en charge de la dyskinésie ciliaire primitive reste mal codifiée et doit s’appuyer sur des centres spécialisés afin d’améliorer le diagnostic et les traitements, et de promouvoir la recherche.
Clinical features of primary ciliary dyskinesia in Cyprus with emphasis on lobectomized patients
2015, Respiratory Medicine
Citation Excerpt :
Among PCD patients who presented in adulthood and had reduced FEV1, the lobectomised patients were the great majority (5 out of 7). To date there is only one early, retrospective publication on the long term outcome of PCD patients who underwent lobectomies to manage their chronic lung disease [12]. In that report, Smit et al. reviewed 13 lobectomised PCD patients and compared them to 8 non-lobectomised peers, 29 years after surgery.
Despite the manifestations of primary ciliary dyskinesia (PCD) in early life, the diagnosis is often much delayed. Since 1998 in Cyprus, we have established the only national diagnostic and clinical referral center for PCD.
To review the phenotypic features at presentation of PCD patients in Cyprus in relation to age at diagnosis, with emphasis on previously lobectomised patients.
The medical records of the diagnosed PCD patients were retrospectively reviewed to obtain clinical data on presentation.
Thirty patients, aged 13.9 years (range 0.1, 58.4 years), were diagnosed with PCD. Twelve of them presented after the age of 18. The most common manifestations were chronic cough (100%), chronic rhinorrhea (96.7%), sputum production (92.9%), laterality defects (63.3%), a history of pneumonia (53.3%) and neonatal respiratory distress (50%). A history of lobectomy in the past was recorded in 16.7% (5 patients). Patients who presented in adulthood had significantly higher frequency of lobectomy (41.7% vs 0%, p-value = 0.006) and had more frequently low FEV₁ (58.3% vs 0%, p-value = 0.015) than those who presented before. Serial measurements of FEV₁ and FVC indicated significantly lower intercepts in lobectomised compared to the adult non-lobectomised patients both in terms of FEV₁ (−4.90 vs −1.80, p-value = 0.022) and FVC (−5.43 vs −1.91, p-value = 0.029) z-score levels. Change in FEV₁ and FVC across time was not statistically significant in either group.
PCD often remains undiagnosed up to adulthood accompanied by appearance of advanced lung disease. Performance of lobectomies seems to be a poor prognostic factor for PCD in adulthood.
Congenital ciliary dyskinesia. Focus
2013, Revue de Pneumologie Clinique
Les dyskinésies ciliaires primitives (DCP) sont des maladies génétiques rares liées à une anomalie fonctionnelle et structurelle des cils mobiles. La prévalence estimée, de 1/15 000 à 1/30 000 est probablement sous estimée car le diagnostic n’est pas toujours évoqué en l’absence de syndrome de Kartagener. Le diagnostic est confirmé par la mise en évidence d’anomalie fonctionnelle (mesure du NO nasal et étude de la mobilité ciliaire en microscopie optique et vidéo-microscopie) et ultrastructurale du cils. La recherche génétique avec aujourd’hui plus de 16 gènes identifiés, sera guidée par le type de l’anomalie ultrastructurale mise en évidence. Évoquer puis confirmer le diagnostic précocement permet une prise en charge thérapeutique adaptée et une amélioration du pronostic des patients atteints de DCP.
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia. Prevalence, about 1/15,000 to 1/30,000, is probably underestimated, as diagnosis might not be evocated in absence of Kartagener syndrome. Diagnosis is confirmed in presence of abnormal ciliary motility as well as ciliary ultrastructure. Disease-causing mutations in at least 16 genes have already been identified; analysis will be guided by the type of ultrastructural abnormalities. An early and adequate diagnosis and therapy can theoretically improve the prognosis of the disease.
Clinical and genetic aspects of primary ciliary dyskinesia/kartagener syndrome
2009, Genetics in Medicine
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate (dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media) reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease), reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.

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Chest

Clinical Investigations: AirwaysIs Resection of Bronchiectasis Beneficial in Patients With Primary Ciliary Dyskinesia?

Section snippets

MATERIALS AND METHODS

RESULTS

DISCUSSION

Fertil Steril

Chest

J Thorac Cardiovasc Surg

A human syndrome caused by immotile cilia

Science

The immotile cilia syndrome: a congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility

N Engl J Med

Kartagener's syndrome abnormal cilia

Eur J Respir Dis

Clinical Investigations: Airways
Is Resection of Bronchiectasis Beneficial in Patients With Primary Ciliary Dyskinesia?