Journal of Tuberculosis and Lung Disease ›› 2023, Vol. 4 ›› Issue (2): 147-152.doi: 10.19983/j.issn.2096-8493.20230015
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Yang Cui, Li Yuan, He Zhentao, Xu Jiaxing, Yu Xiaoying, Lu Chengyu, Chen Dehui, Zhai Yingying()
Received:
2023-01-05
Online:
2023-04-20
Published:
2023-04-07
Contact:
Zhai Yingying, Email: CLC Number:
Yang Cui, Li Yuan, He Zhentao, Xu Jiaxing, Yu Xiaoying, Lu Chengyu, Chen Dehui, Zhai Yingying. Primary ciliary dyskinesia for DNAAF3 gene mutations: a case report and literature review[J]. Journal of Tuberculosis and Lung Disease , 2023, 4(2): 147-152. doi: 10.19983/j.issn.2096-8493.20230015
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URL: http://www.jtbld.cn/EN/10.19983/j.issn.2096-8493.20230015
临床表现 | 病例1 | 病例2 | 病例3 | 病例4 | 病例5(本例) | |
---|---|---|---|---|---|---|
性别 | 男性 | 男性 | 女性 | 女性 | 男性 | |
确诊年龄 | 1个月 | 8个月 | 10个月 | 10岁 | 4个月 | |
出生状况 | 足月顺产,出生 体质量2.3kg | 足月顺产,出生 体质量3.1kg | 足月顺产,出生 体质量3.0kg | 足月顺产,出生 体质量3.5kg | 足月顺产,出生 质量3.0kg | |
新生儿呼吸窘迫 | 有 | 有 | 有 | 有 | 无 | |
内脏反位 | 有 | 有 | 有 | 有 | 有 | |
呼吸道症状 | 间断湿性咳嗽 | 支气管炎,间断咳嗽 | 间断湿性咳嗽 | 全年干咳 | 肺炎,间断湿性咳嗽 | |
肺部听诊 | 少许干性啰音 | 无异常 | 无异常 | 双肺粗湿性啰音 | 双肺粗湿性啰音 及少许干性啰音 | |
中耳炎 | 未知 | 有 | 未知 | 无 | 未知 | |
鼻窦炎 | 有 | 有 | 有 | 有 | 无 | |
呼出气一氧化氮测定 | 未获得 | 无异常 | 未获得 | 无异常 | 未获得 | |
胸部CT扫描 | 局部实变, 内脏左右异位 | 内脏左右异位 | 内脏左右异位 | 支气管扩张, 内脏左右异位 | 支气管肺炎, 内脏左右异位 | |
呼吸道纤毛电镜 | 动力臂稀少 | 内外动力臂缺失 | 内外动力臂缺失 | 内外动力臂缺失 | 外动力臂缺失 | |
突变位点 | c.442delC+ c.1465C>T | c.679delC+ c.679delC | c.811_815dupGACGC+ c.200C>A | c.388_432+60del+ c.811_815dupGACGC | c.748_752dupGACGC+ c.326G>C | |
氨基酸变化 | p.L148Wfs*13+ p.Q489* | p.L227Sfs*28+ p.L227Sfs*28 | p.A273Tfs*13+ p.S67Y | 未获得+ p.A273Tfs*13 | p.Arg252Thrfs*13+ p.Arg109Pro | |
染色体位置 | 4号+12号 | 5号+5号 | 6号+2号 | 3号+6号 | 19号+19号 | |
治疗转归 | 良好 | 良好 | 良好 | 良好 | 良好 |
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