Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia  

作　　者：Chun Bian Xinyue Zhao Yaping Liu Minjiang Chen Shuying Zheng Xinlun Tian Kai-Feng Xu 

机构地区：[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

出　　处：《Frontiers of Medicine》2021年第6期933-937,共5页医学前沿（英文版）

基　　金：supported by the National Key Research and Development Program of China(No.2016YFC0901502);CAMS Innovation Fund for Medical Sciences(Nos.CIFMS-2018-I2M-1-003,CIFMS-2017-12M-2-001,CIFMS-2020-I2M-C&T-B-002,and CIFMS-2016-I2M-1-002).

摘　　要：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.

关 键 词：primary ciliary dyskinesia NEUROFIBROMATOSIS BRONCHIECTASIS transmission electron microscopy genetic sequencing 

分 类 号：R739.4[医药卫生—肿瘤]