Poster Presentations: Tuesday, October 25, 2011 |

Ciliary Abnormalities in Siblings With Chronic Oto-Sino-Pulmonary Diseases FREE TO VIEW

Edith Allen, MD; Barbara Stewart, MD
Chest. 2011;140(4_MeetingAbstracts):389A. doi:10.1378/chest.1120195
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Published online


PURPOSE: To compare ciliary abnormalities reported by electron microscopy among siblings with chronic oto-sino-pulmonary diseases.

METHODS: Reports of electron microscopy examining ciliary architecture of nasal and/or carina specimens were obtained from siblings in the period of August 1st 2007 to December 31st 2010.

RESULTS: Siblings from 15 families were identified. Family A, one sibling had missing central, peripheral and displaced microtubules while the other sibling had reduced number of inner dynein arms. B, both had missing peripheral and central tubules plus reduced inner dynein arms. C, one had missing peripheral and the other missing central tubules. D, half-siblings, one had missing central/peripheral tubules and disorientation of central tubules, while the other had a normal report. E, one had decreased number of cilia and basal bodies, the other had increase in compound cilia. F, three siblings, two had normal studies, while the middle sibling had increased compound cilia and missing central and additional peripheral tubules. G, both had lamellar cytoplasmatic inclusions suggesting degenerating mitochondria. H, half-siblings, one had a normal study while the other had missing peripheral tubules consistent with reactive changes. I, one had defects in the central tubules, while the oldest had a normal study. J, the oldest sibling had displaced and additional peripheral microtubules. The youngest had a normal report. K, one had missing central and peripheral plus misalignment, the oldest sibling had a normal report. L, both had a significant abnormal percentage of cilia (16 and 13%). M, both had missing central and peripheral tubules. N, three siblings (twins and older sibling) all had increased compound cilia. O, both had loss of one or both central tubules.

CONCLUSIONS: Comparing siblings vs. half-siblings, on the first group 9/13 families had siblings with abnormal ciliary architecture (6 pair of siblings with similar findings), while on the second group 0/2 families had both siblings with ciliary abnormalities.

CLINICAL IMPLICATIONS: Especial diagnostic considerations should me made to evaluate more than one member in the same family with manifestations of chronic oto-sino-pulmonary infections.

DISCLOSURE: The following authors have nothing to disclose: Edith Allen, Barbara Stewart

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