A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations
| العنوان: | A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations |
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| المؤلفون: | Azusa Miyoshi, Etsuko Tagaya, Mitsuko Kondo, Kazuhiro Abe, Kiyoshi Takeyama, Asuka Ichikawa, Mami Orimo, Nahoko Honda, Kazuhiko Takeuchi |
| المصدر: | Internal Medicine. 58:2383-2386 |
| بيانات النشر: | Japanese Society of Internal Medicine, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, Bronchiectasis, business.industry, Cilium, Chronic sinusitis, Video microscopy, General Medicine, 030204 cardiovascular system & hematology, Compound heterozygosity, medicine.disease, respiratory tract diseases, 03 medical and health sciences, Situs inversus, 0302 clinical medicine, otorhinolaryngologic diseases, Internal Medicine, medicine, 030211 gastroenterology & hepatology, Outer dynein arm, business, Primary ciliary dyskinesia |
| الوصف: | A 33-year-old woman presented with a productive cough from childhood. She had suffered from repeated bacterial pneumonia. Her clinical and imaging findings revealed chronic sinusitis, bronchiectasis and situs inversus. We suspected primary ciliary dyskinesia (PCD) and performed a bronchial mucosal biopsy. The ciliary beat pattern according to high-speed video microscopy was complete loss. Electron microscopic findings of cilia showed defect of outer dynein arm (ODA). A genetic examination detected compound heterozygous mutations of DNAH5 that encode ODA components. There are few reports of genetic mutation analyses in Japanese PCD patients. We herein report a PCD patient with DNAH5 mutations and review the related literature. |
| تدمد: | 1349-7235 0918-2918 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::3622d98ec0ea978293103fa387cd7311Test https://doi.org/10.2169/internalmedicine.1961-18Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi...........3622d98ec0ea978293103fa387cd7311 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13497235 09182918 |
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