Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia.
10.1007/s11684-021-0860-7
- Author:
Chun BIAN
1
;
Xinyue ZHAO
2
;
Yaping LIU
2
;
Minjiang CHEN
3
;
Shuying ZHENG
4
;
Xinlun TIAN
5
;
Kai-Feng XU
3
Author Information
1. Department of Internal Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
2. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
3. Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
4. Department of Electron Microscope Laboratory, Peking University People's Hospital, Beijing, 100034, China.
5. Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China. tianxl@pumch.cn.
- Publication Type:Journal Article
- Keywords:
bronchiectasis;
genetic sequencing;
neurofibromatosis;
primary ciliary dyskinesia;
transmission electron microscopy
- MeSH:
Cilia;
Humans;
Kartagener Syndrome/genetics*;
Microscopy, Electron;
Mutation;
Neurofibromatosis 1/genetics*
- From:
Frontiers of Medicine
2021;15(6):933-937
- CountryChina
- Language:English
-
Abstract:
Neurofibromatosis (NF) is a genetic disease in which the lungs are rarely involved. However, in NF cases with lung involvement, chest computed tomography may show bilateral basal reticulations, apical bullae, and cysts without bronchiectasis. Herein, we report a patient diagnosed with NF on the basis of the results of genetic testing who presented with early-onset wet cough and bronchiectasis. Considering the differential diagnosis of bronchiectasis combined with his early-onset wet cough, sinusitis, and sperm quality decline, we considered the possibility of primary ciliary dyskinesia (PCD). Further electron microscopy analysis of cilia and identification of homozygous mutations in the RSPH4A gene confirmed the diagnosis of PCD. Therefore, for patients with NF, when an image change exists in the lungs that does not correspond to NF, the possibility of other diagnoses, including PCD, must be considered.
