%0 Journal Article
%T Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan.
%A Ito M
%A Morimoto K
%A Saotome M
%A Miyabayashi A
%A Wakabayashi K
%A Yamada H
%A Hijikata M
%A Keicho N
%A Ohta K
%J Intern Med
%V 0
%N 0
%D 2024 Mar 4
%M 38432987
%F 1.282
%R 10.2169/internalmedicine.3263-23
%X 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.