Syndrome de dyskinésie ciliaire primitive – Triade de Kartagener – Immotilité Português: Síndrome de Kartagener, – Discinesia Ciliar Primária – Triade de. Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by an abnormal ciliary structure or function. Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis . E-mail: [email protected] Website.
|Published (Last):||14 April 2012|
|PDF File Size:||15.76 Mb|
|ePub File Size:||2.63 Mb|
|Price:||Free* [*Free Regsitration Required]|
Mucociliary transport was significantly delayed in all patients, and the sperm tails lacked dynein arms in 5 men.
Electron microscopy of nasal and bronchial mucosa in the proband showed abnormal orientation of the basal processes of the cilia and absent dynein arms, but completely normal sperm. Expert curators review the literature and organize it to facilitate your work.
Kartagener’s syndrome in childhood.
A treatment for primary ciliary dyskinesia: A quantified microphoto-oscillographic investigation of 27 patients. These diverse findings suggested genetic heterogeneity of the disorder.
Other features include digital clubbing, skndrome infertility, and diminished female fertility.
Studies in Sweden, France, and Canada indicate that lack of dynein arms is the most common cause of the immotile cilia syndrome.
Samuel reported a year-old man with typical Kartagener syndrome except for the presence of normal spermatozoa.
Cilia propel overlying mucus via a two-part ciliary beat cycle. Both brothers also had ureteral lithiasis.
Page not available
Effect of passive smoking on the ultrastructure of the nasal mucosa in children. They studied protein-carboxyl methylase EC 2. The findings suggested either X-linked or autosomal dominant inheritance. Low enzyme activity in 9 infertile patients with nonmotile spermatozoa was, they thought, not due to a primary genetic defect, since the enzyme activity was normal in red cells of these patients and spontaneous recovery of motility was associated with return of enzyme activity.
Kartgener microscopy of the respiratory cilia and sperm showed scarce or absent dynein arms. Moreno xindrome Murphy reexamined the surmised autosomal recessive inheritance of situs inversus, and suggested that given the homozygous genotype, the phenotypic lateralization is as likely to be left as to be right.
Am J Rhinol Allergy.
Although most familial cases of Kartagener syndrome have been confined to sibs, Torgersen suggested dominant inheritance. The cilia of the brother showed absent or truncated outer dynein arms. Prenatal Diagnosis Wessels et al.
The count of outer dynein arms was consistent in a given individual. The 3 patients, and a brother of 1 of them, also had immotile spermatozoa, with the sperm tail appearing straight and stiff.
Discinesia ciliare primaria
Epidemiology US frequency The frequency of Kartagener syndrome is 1 case per 32, live births. Cilia and sperm tail abnormalities in Polynesian bronchiectatics.
Edit article Share article View revision history. Afzelius oartagener that embryonic cilia bring the heart to the left side in the mid-fourth week in the mouse.
Primary Ciliary Dyskinesia (Kartagener Syndrome)
Os outros dois casos eram de pacientes adultos, do sexo feminino e sem filhos. Repeated brush biopsies of the bronchial epithelium showed only keratinized squamous epithelium and no ciliated cells. Afzelius noted that semi-sterility of affected females had been observed.
It probably results from elevated levels of local inflammatory mediators in a chronically irritated airway. Electron microscopy showed a defect in dynein arms in both sperm tails and pulmonary cilia. Neutrophil function in primary cilia dyskinesia. Berdon WE, Willi U. MIM number is from the Online Mendelian Inheritance in Man Web site, which is a continuously updated catalog of human genes, genetic disorders, and traits, with particular focus on the molecular relationship between genetic variation and phenotype expression.
Additional family studies of 1 patient found no linkage between the disorder and intragenic polymorphism or 4 flanking markers. Magnin et al evaluated the longitudinal relationships between lung function tests LFTs and chest HRCT in children with primary ciliary dyskinesia and found significant correlation.
Familial transposition of viscera. Note that CILD12 maps to 6p Analysis of sperm function in Kartagener’s syndrome. For other causes of lower-lobe bronchiectasis which are independent of a situs abnormality, see page on lower lobe bronchiectasis. Geremek M, Witt M.
Kartagener syndrome | Radiology Reference Article |
The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Matthew Olearczyk, MD and Esther X Vivas, MD, to the development and writing of this article. C ] – Absent or abnormal dynein arms of sinvrome and respiratory epithelial cilia by electron microscopy [UMLS: Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis.
Pifferi et al found that plethysmography better predicted HRCT abnormalities than spirometry by allowing recognition of different severities of focal air trapping, atelectasis, and extent of bronchiectasis in patients with primary ciliary dyskinesia. Fifty percent of mice homozygous for the iv mutation see show situs inversus Layton, ; Brueckner et al.