Ciliopathy with Special Emphasis on Kartageners Syndrome
Abstract
Cilia are hair-like structures extending from the cell membrane, perform diverse biological functions. Primary defects in the
structure and function of sensory and motile cilia result in multiple ciliopathies. The most prominent genetic abnormality
involving motile cilia is primary ciliary dyskinesia (PCD) or Kartageners syndrome. PCD is a rare, usually autosomal recessive,
genetically heterogeneous disorder characterized by sino-pulmonary disease, laterality defects and male infertility. One of the
important components of cilia is the Dynein. Ciliary ultrastructural defects are identified in approximately 90% of PCD patients
and involve the outer dynein arms, inner dynein arms, or both. Diagnosing PCD is challenging and requires a compatible clinical
phenotype together with tests such as ciliary ultrastructural analysis, immunofluorescent staining, ciliary beat assessment,
and/or nasal nitric oxide measurements. Increased understanding of the pathogenesis will aid in better diagnosis and treatment
of PCD. The aim of the article is to present the basic defect involved in the etiology of this interesting syndrome.
Key Words: Ciliopathy, Situs Inversus, Laterality defect, Primary ciliary dyskinesia, Axoneme
structure and function of sensory and motile cilia result in multiple ciliopathies. The most prominent genetic abnormality
involving motile cilia is primary ciliary dyskinesia (PCD) or Kartageners syndrome. PCD is a rare, usually autosomal recessive,
genetically heterogeneous disorder characterized by sino-pulmonary disease, laterality defects and male infertility. One of the
important components of cilia is the Dynein. Ciliary ultrastructural defects are identified in approximately 90% of PCD patients
and involve the outer dynein arms, inner dynein arms, or both. Diagnosing PCD is challenging and requires a compatible clinical
phenotype together with tests such as ciliary ultrastructural analysis, immunofluorescent staining, ciliary beat assessment,
and/or nasal nitric oxide measurements. Increased understanding of the pathogenesis will aid in better diagnosis and treatment
of PCD. The aim of the article is to present the basic defect involved in the etiology of this interesting syndrome.
Key Words: Ciliopathy, Situs Inversus, Laterality defect, Primary ciliary dyskinesia, Axoneme
Ul Hassan, A., Hassan, G., Khan, S. H., Rasool, Z., & Abida, A. (2009). Ciliopathy with Special Emphasis on Kartageners Syndrome. International Journal of Health Sciences, 3(1). Retrieved from https://pub.qu.edu.sa/index.php/journal/article/view/34
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