Ultrastructural Abnormalities of Respiratory Cilia A 25 Year Experience by ProQuest


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									         Ultrastructural Abnormalities of Respiratory Cilia
                                                   A 25-Year Experience
                   Thomas P. Plesec, MD; Angela Ruiz, MD; James T. McMahon, PhD; Richard A. Prayson, MD

● Context.—Ciliary dyskinesia is a rare, but significant,              revealed transposition defects with displacement of the
cause of chronic respiratory infections, and transmission             central microtubules and peripheral doublets in 9 0 and
electron microscopy is a critical adjunct to making the di-           8     1 patterns. Radial spoke defects with microtubular
agnosis.                                                              disarray occurred in 4 (19%) of 21 cases. Compound cilia
   Objective.—To investigate a single institution’s experi-           with multiple axonemes within a single outer sheath and
ence with patients demonstrating abnormal ciliary ultra-              supernumerary microtubules each occurred in 2 (10%) of
structure.                                                            the cases. Random ciliary orientation was also found in 2
   Design.—Retrospective clinicopathologic review of 278              (10%) of the cases, and dense granular basal body inclu-
bronchial or nasal turbinate brushings or biopsies from               sions occurred in 1 case (5%). Multiple abnormalities oc-
1983 through 2007.                                                    curred in 6 (29%) of the 21 cases.
   Results.—There were 12 women and 9 men (mean age,
                                                                         Conclusions.—Most patients presented with chronic re-
19.6 years; range, 1–54 years) with abnormal ciliary ultra-
structure. Clinical history was unavailable in 3 patients, 15         spiratory tract infections or infertility. Dynein arm defects,
(83%) of 18 patients presented with chronic or recurrent              transposition defects, and radial spoke defects were the
upper respiratory infections, and 3 (17%) presented with              most commonly encountered abnormal findings. Less-fre-
infertility. Seven (39%) of 18 patients had findings of Kar-           quent abnormal findings included compound cilia, super-
tagener syndrome with situs inversus, dextrocardia, and               numerary microtubules, and dense granular basal body in-
bronchiectasis. Truncation or absence of inner or outer dy-           clusions.
nein arms occurred in 15 (71%) of 21 cases, and 5 (24%)                  (Arch Pathol Lab Med. 2008;132:1786–1791)

C   iliated cells are found lining various body cavities,
      such as the respiratory tract, the ventricles in the cen-
tral nervous system, the ductuli efferentes, the fallopian
                                                                      fects have been described and implicated as causes of cilia-
                                                                      related disease. These include absence of radial spokes
                                                                      with microtubular disarray, absence of the central pair of
tubes, and the retina. Defects in ciliary anatomy can,                microtubules (with or without transposition of one of the
therefore, lead to an array of diseases, such as chronic re-          outer pairs of microtubules to the center position, so-
spiratory infections, hydrocephalus, infertility, and blind-          called 9     0 or 8      1 defects), absence of the central
ness. Normal ciliary ultrastructure was initially described           sheath, supernumerary doublets, absence of the axoneme,
by Afzelius in 1959 and consists of 9 peripheral microtu-             elongated cilia, and random ciliary orientation, among
bule doublets surrounding a central pair of microtubule               others.1,2
singlets (Figure 1).1 Each doublet has inner and outer dy-               Several series3–6 since 2000 have reported on patients
nein arms, which are able to ‘‘walk’’ along the adjacent              with ciliary dyskinesia, often focusing on clinical presen-
microtubular doublet, bending the cilium. Radial spokes               tations and outcomes. This study sought to add to the
between the doublets and a central sheath provide struc-              literature by reviewing one institution’s experience with
tural support.2 Similar microtubular structures are also              ciliary biopsy and brushing specimens, specifically focus-
present in spermatozoal flagella, and the absence of one               ing on the clinicopathologic features of cases with ultra-
or both dynein arms in patients with immotile sperma-                 structurally abnormal cilia.
tozoa was first reported in 1975.1 These patients were also
                                                                                      MATERIALS AND METHODS
diagnosed with Kartagener syndrome, characterized by
the classic triad of sinusitis, bronchiectasis, and situs in-            After receiving institutional review board approval, results of
versus. Since then, numerous other ciliary structural de-             transmission electron microscopy (TEM) performed on respira-
                                                                      tory cilia of patients from 1983 through 2007 were retrospectively
                                                                      reviewed. The study group consisted of those cases with ultra-
  Accepted for publication April 23, 2008.                            structurally abnormal cilia. Specimens consisted of bronchial or
  From the Department of Anatomic Pathology, Cleveland Clinic Foun-   nasal turbinate brushings. Motility was assessed by evaluation of
dation, Cleveland, Ohio.                                              saline wet-mount preparations for assessment of wave p
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