Revista de otorrinolaringología y cirugía de cabeza y cuello
versión On-line ISSN 0718-4816
GRAU L, Carolina; GONZALEZ B, Sergio y FONSECA A, Ximena. Genetic diagnosis in primary ciliary dyskinesia: Literature review. Rev. Otorrinolaringol. Cir. Cabeza Cuello [online]. 2011, vol.71, n.1, pp. 71-76. ISSN 0718-4816. http://dx.doi.org/10.4067/S0718-48162011000100011.
Primary cilliary dyskinesia (PCD) is an heterogeneous genetic disease caused by a structural and/or functional alteration of the ciliary skeleton. It is a diagnostic challenge due to its protean clinical presentation and to the complexity of screening and diagnostic methods. The method hitherto regarded as the gold standard is the analysis of ciliary structure by transmission electron microscopy (TEM). This presents limitations because analyzes a limited number of ciliary axonemes, and may exclude cases with typical functional and clinical presentation. In recent years new diagnostic methods have been developed based on novel knowledge of the structural ciliary proteins, the genes encoding these proteins and mutations associated to DCP. These new methods include genetic analysis and the study of protein expression in cilia of the affected patients. This paper reviews DCP pathophysiology, the current diagnostic methods applied, and summarizes the international literature regarding the diagnosis of DCP based on genetic screening.
Palabras clave : Primary cilliary dyskinesia; genetic diagnosis.