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

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 l...

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Veröffentlicht in:	Internal Medicine 2024/10/15, Vol.63(20), pp.2847-2851
Hauptverfasser:	Ito, Masashi, Morimoto, Kozo, Saotome, Mikio, Miyabayashi, Akiko, Wakabayashi, Keiko, Yamada, Hiroyuki, Hijikata, Minako, Keicho, Naoto, Ohta, Ken
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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