Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan

• Published in: Internal Medicine Vol. 63; no. 20; pp. 2847 - 2851
• Main Authors: Ito, Masashi, Morimoto, Kozo, Saotome, Mikio, Miyabayashi, Akiko, Wakabayashi, Keiko, Yamada, Hiroyuki, Hijikata, Minako, Keicho, Naoto, Ohta, Ken
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 15-10-2024; Japan Science and Technology Agency
• Subjects: Bronchiectasis; Bronchiectasis - diagnosis; Bronchiectasis - genetics; Case Report; Computed tomography; Consanguinity; DNAAF1; Dynein; Electron microscopy; Female; Gene deletion; Genetic analysis; Homozygote; Humans; Japan; Kartagener Syndrome - diagnosis; Kartagener Syndrome - genetics; Middle Aged; Mutation; Nitric oxide; Primary ciliary dyskinesia; Japan; bronchiectasis; DNAAF1; primary ciliary dyskinesia
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.3263-23

We 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.