In response to high yield technique to diagnose immotile cilia syndrome: a suggested algorithm

In Reply: Dr. Carson’s expertise in the field of primary ciliary dyskinesia (PCD) is appreciated, and it is obvious that much can be learned and should be shared from his knowledge on the subject. We respond to his concerns in regard to our published abstract with the following comments. The impetus to look at a better technique was because of the high number of specimens sent for electron microscopy (EM) with a response of insufficient specimen or nondiagnostic. This we experienced ourselves, as did many of our colleagues (shared personal communications). With that observation, using light microscopy at the time of brush biopsy increased our yield of obtaining a specimen with cilia present for evaluation. As a matter of fact, we believe one of the strengths of our abstract and poster presentation was the method used to obtain our biopsy. It is simple, less invasive, and with a high yield of obtained cilia to examine. Further of interest was that even in the presence of cilia noted on light microscopy, those specimens sent for EM at times lacked the ability to offer a diagnosis, normal or otherwise. Of note, in the study by Olin et al., 12% of their samples with nasal scrape were inadequate for interpretation, and of those 88% deemed adequate, 11% were indeterminate after EM evaluation. This provides evidence that in the most experienced hands, 21.6% of their patients failed to receive a definitive answer from their specimen collection and technique. 1 We would agree that EM is the gold standard, but would argue that even current literature still debates the need for its use 100% of the time, and that efficient and cost-effective screening tools in the evaluation of PCD, such as cilia motility studies, may be deemed sufficient. 2–4 The abstract by Gupta 2 was as recent as 2011. We would suggest and agree with others 5 that if clinical suspicion were strong, even in view of normal cilia motility on light microscopy, further assessment should be performed and reconsideration of the diagnosis should be entertained. Clinicians must be cognizant that small centers may lack the special expertise in obtaining and analyzing a cilia specimen, and the procedure and evaluation may best be performed in the few centers with the greatest experience, best available resources, and with modern laboratory capability. Last, we would agree that the use of the term PCD in our title instead of immotile cilia syndrome would have been more acceptable by experts in the field. However, many current articles in the literature, as well as internet search engines, recognize and use the older terminology immotile cilia syndrome, and therefore our decision was to use the terminology in our title but not in the body of the abstract. We certainly appreciate Dr. Carson’s wisdom on the topic of PCD. However, we remind Dr. Carson that most facilities do not have the resources his research lab and institution have available to study this disease. Those of us in clinical medicine would hope to never miss a diagnosis by providing a false negative to a patient and delay treatment. However, we believe that our technique offers more value by increasing the ability to have the specimen to study to provide a diagnosis to more patients who otherwise might go through a procedure with a nondiagnostic result returned. This was our initial experience, which was further confirmed in the article mentioned above by Olin et al. This article finds that in the presence of intense training to obtain an adequate specimen and with a lab that has most advanced equipment to diagnose PCD, a high rate of 21.6% of specimens obtained ended up to be nondiagnos