Transposition of Viscera—Bronchiectasis and Nasal Polyps

Torgersen, Johan

doi:10.3109/00016924709135208

Cited by 51 publications

(13 citation statements)

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“…From a mass roentgenographic study of the Norwegian population, Torgersen (1947Torgersen ( , 1949 concluded that situs inversus has a prevalence of 1 in 8,000. He further found that «bronchiectasis and nasal polyps occur in barely 10 % of individuals with situs inversus».…”

Section: Prevalence Of the Immotile-cilia Syndromementioning

confidence: 99%

Prevalence and genetics of immotile-cilia syndrome and left-handedness

Afzelius

Stenram²

2006

Int. J. Dev. Biol.

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Immotile-cilia syndrome is characterized by severe respiratory distress from early infancy, and also often by situs inversus. The first description of the disease was based on just four persons, but reasons were given to suggest that the disorder may not be exceedingly rare. The purpose of the present study was to estimate just how rare or how common it is and to evaluate its association with situs inversus and with left-handedness. Data were mainly obtained from contacting a large number of Swedish clinicians who kindly informed us about their patients with suspected immotile-cilia syndrome. Diagnosis was in most cases performed by electron microscopical examination of nasal cilia or of spermatozoa. Based on these data, the prevalence of the syndrome in Sweden with or without situs inversus was estimated to be not far from 1 in 10,000. The syndrome consists of several subgroups that have a randomized determination of situs asymmetry (50% of these have situs inversus) and one subgroup in which situs inversus is not found. This results in a frequency of situs inversus in the syndrome of about 44 %. Left-handedness is no more common than it is in healthy persons and no more often associated with situs inversus than with situs solitus. In all cases it is about 14 %. It is concluded that the two major anatomical/ physiological asymmetries of the human body are found with frequencies which indicate that they develop independently of each other. Both conditions appear with prevalences that may have changed at a secular scale, left-handedness with a substantial increase and situs inversus with a less dramatic increase.

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Section: Prevalence Of the Immotile-cilia Syndromementioning

confidence: 99%

Prevalence and genetics of immotile-cilia syndrome and left-handedness

Afzelius

Stenram²

2006

Int. J. Dev. Biol.

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“…PCD has an estimated incidence of 1 per 10,000-20,000 births, based on population surveys of situs inversus and bronchiectasis in Norway and Japan (7,8). The prevalence of PCD in the United States is difficult to determine, largely due to inadequacies of diagnostic methods (9).…”

mentioning

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

435

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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“…Secondary to a failure in mucociliary defense mechanisms, recurrent pulmonary infections often leads to bronchiectasis seen in PCD patients. Male patients may have reduced fertility due to sperm immotility or abnormalities of the vas deferens [4,8,9]. Coexisting of retinitis pigmentosa and PCD have been reported in same cases [10].…”

Section: Discussionmentioning

confidence: 99%

“…Situs inversus occurs randomly in approximately 50% of subjects with PCD [1][2][3]. The prevalence is estimated at approximately 12000 to 17000, as extrapolated from radiographic studies [4,5]. PCD may be caused by one of a number of different ciliary ultrastructural defects, each of which results in ineffective ciliary function.…”

Section: Introductionmentioning

confidence: 99%

Complete Ciliary Aplasia; a Rare Form of Primary Ciliary Dyskinesia

Ergün¹,

Deniz²,

Erdoğan³

et al. 2010

Tur Toraks Der

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This report describes the ultrastructural alterations observed in the bronchial mucosa of a 29-year old male patient suffering from chronic upper and lower respiratory tract infections since his childhood and operated due to bronchiectasis and sinusitis. Electron microscopic evaluation of the bronchial biopsy specimens revealed ciliated cells appeared to be replaced by columnar cells lacking cilia and basal bodies, and bearing on their surface ciliumlike projections without any internal axonemal structure. These ultrastructural features are consistent with complete ciliary aplasia which is a rare form of primary ciliary dyskinesia. ÖZETBu yazıda çocukluğunda bronşektazi ve sinüzit nedeniyle ameliyat olan, kronik üst ve alt solunum yollarında kronik infeksiyonu olan 29 yaşındaki erkek hastanın bronş mukozasının mikroskopik incelemesinde anormallik saptanmıştır. Bronş biyopsisi örneklerinin elekron mikroskopik incelemesinde silialı hücrelerin olması gereken bölgelerde kübik hücrelerin olduğu, siliaların ve bazal cisimciklerin yok olduğu, içinde internal aksonal yapı olmayan siliaya benzer yapıların olduğu izlendi. Bu mikroskopik bulgular primer siliyer diskinezinin nadir bir formu olan komplet silier aplazi varlığını göstermektedir.

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Transposition of Viscera—Bronchiectasis and Nasal Polyps

Cited by 51 publications

References 0 publications

Prevalence and genetics of immotile-cilia syndrome and left-handedness

Prevalence and genetics of immotile-cilia syndrome and left-handedness

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

Complete Ciliary Aplasia; a Rare Form of Primary Ciliary Dyskinesia

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