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- Masashi Ito, Kozo Morimoto, Mikio Saotome, Akiko Miyabayashi, Keiko Wakabayashi, Hiroyuki Yamada, Minako Hijikata, Naoto Keicho, and Ken Ohta.
- Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
- Intern. Med. 2024 Oct 15; 63 (20): 284728512847-2851.
AbstractWe present the case of a 58-year-old female patient with primary ciliary dyskinesia (PCD). She was born to parents with a consanguineous marriage. Chest computed tomography conducted at age 41 years indicated no situs inversus, and findings of bronchiectasis were limited to the middle and lingular lobes. Despite long-term macrolide therapy, bronchiectasis exacerbations frequently occurred. PCD was suspected because of the low nasal nitric oxide level (20.7 nL/min). Electron microscopy revealed outer and inner dynein arm defects, and a genetic analysis identified a homozygous single-nucleotide deletion in the DNAAF1 gene. Based on these results, the patient was diagnosed with PCD due to a biallelic DNAAF1 mutation.
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