TY - JOUR T1 - What is the gold standard in the diagnosis of primary ciliary dyskinesia syndrome? JF - European Respiratory Journal JO - Eur Respir J VL - 38 IS - Suppl 55 SP - p512 AU - Maria Teresa Romero Rubio AU - Miguel Armengot Carceller AU - Carmen Carda Batalla AU - Amparo Escribano Montaner AU - Javier Milara Paya Y1 - 2011/09/01 UR - http://erj.ersjournals.com/content/38/Suppl_55/p512.abstract N2 - Introduction: The diagnosis of primary ciliary dyskinesia (PCD) is based on the study of ciliary motility (frequency and beat pattern) using high resolution digital video and high speed, combined with ciliary ultrastructure by electron microscopy (EM.) However, this can provide false positives and negatives, so the final diagnosis is defined by the ciliary function.Objectives: 1. To study the real prevalence of PCD after the introduction of the technique of ciliary motility in our center (2007). 2. To set the number of cases previously classified PCD who have a normal ciliary motility.Material and methods: Study of frequency and ciliary beat pattern: a) in patients who had been diagnosed from PCD until 2007 by screening of mucociliary clearance with 99mTc-labeled albumin and abnormal ciliary ultrastructure. b) in patients with clinical suspicion of PCD, from February 2007 to December 2010.Results: a) Prior to the introduction of the technique the diagnosis of PCD was made in 17 cases. With the study of movility, we obtain a normal frequency/beating pattern in 8 of them (47%), dyskinetic in 6 cases (35%), not being possible to do in 3 of them. Therefore, the diagnosis of PCD is reduced 42.8%. 37.5% of confirmed cases associated with situs inversus (S. Kartagener). b) Since 2007 we have studied 79 patients with clinical suspicion of PCD obtaining a dyskinetic pattern in 4 cases (5%), of which only 1 (25%) had anormal ciliary ultrastructure.Conclusions: The diagnosis of PCD based on the study of ciliary ultrastructure has a large percentage of false positives, so the study of ciliary motility should be considered the gold standard for diagnosis. ER -