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

Overview

Journal Intern Med

Specialty General Medicine

Date 2024 Mar 3

PMID 38432987

Authors

Masashi Ito

Kozo Morimoto

Mikio Saotome

Akiko Miyabayashi

Keiko Wakabayashi

Hiroyuki Yamada

Minako Hijikata

Naoto Keicho

Ken Ohta

Affiliations

Soon will be listed here.

Abstract

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.

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