Article
Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations.
Respiratory investigation - 1 Jul 2021
Kurokawa Atsushi, Kondo Mitsuko, Orimo Mami, Honda Nahoko, Miyoshi Azusa, Akaba Tomohiro, Tsuji Mayoko, Nakatani Kaname, Ikejiri Makoto, Yagi Osamitsu, Takeyama Kiyoshi, Takeuchi Kazuhiko, Tagaya Etsuko
Abstract excerpt
Multifaceted analysis is recommended for the diagnosis of primary ciliary dyskinesia (PCD). A 31-year-old woman had situs inversus, bronchiectasis, family history of PCD, and compound heterozygous mutations in DNAH5. Her cilia were immotile. Defects in the outer dynein arms were revealed by transmission electron microscopy and loss of DNAH5 proteins in the entire length of axonemes using immunofluorescence (IF)....
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