title: Primary ciliary dyskinesia with complex abnormalities including cleavage of B-subfibers.
abstract: A 25-year-old Japanese woman suffered from repeated respiratory tract infections. Because of her characteristic medical history and imaging findings, we suspected primary ciliary dyskinesia (PCD) and performed a transbronchial biopsy. The biopsy revealed complex abnormalities of the ciliary structure including cleavage of the B-subfibers observed by transmission electron microscopy analysis and the complete loss of ciliary motion by video analysis. Genetic examinations to diagnose PCD have progressed in recent years. However, in this case, the well-known genetic mutations in causal genes of PCD were not detected via whole-exome sequencing of the blood. Cleavage of the B-subfibers in patients with PCD has never been reported. This case appears to be the first report of this PCD subtype in humans.
authors.affiliation: First Department of Medicine Tokyo Women's Medical University School of Medicine Tokyo Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Orimo
authors.affiliation: First Department of Medicine Tokyo Women's Medical University School of Medicine Tokyo Japan.
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Kondo
authors.affiliation: First Department of Medicine Tokyo Women's Medical University School of Medicine Tokyo Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Arimura
authors.affiliation: First Department of Medicine Tokyo Women's Medical University School of Medicine Tokyo Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Takeyama
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery Mie University Graduate School of Medicine Tsu Japan.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Takeuchi
authors.affiliation: First Department of Medicine Tokyo Women's Medical University School of Medicine Tokyo Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Tamaoki
keywords: B‐subfiber; genetic mutation; immotile cilia; primary ciliary dyskinesia; transmission electron microscope