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鳃-耳-肾综合征误诊为耳前瘘管二例 被引量：11

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摘要 例1 患者,男,26岁,以“右耳前反复肿胀、流脓2年”为主诉入院.专科检查见右耳廓小耳畸形,耳轮脚前方有瘘口,局部充血、肿胀,无皮肤溃破.外耳道内有大团暗褐色物堆积,清除后见外耳道骨部狭窄,鼓膜正常.既往曾行“唇腭裂修补术”.有耳前瘘管家族史.纯音听阈测定示右耳传导性聋,平均骨气导差30 dB.未行颞骨CT、MRI及肾脏彩超检查.临床诊断为右侧先天性小耳畸形并耳前瘘管感染、外耳道狭窄、唇腭裂修补术后,在局麻下行“右耳前瘘管切除术”.术中发现瘘管向后与耳轮脚处软骨相贴,向下、向内沿外耳道上壁进入外耳道,以一盲端终止于鼓环外9点处.完整切除瘘管后复位耳道皮瓣,未行中耳探查,术后病理为符合瘘管伴慢性炎性反应.随访3年未复发.
作者 孙淑萍 卢伟 朱丽雅 辛鑫 雷一波
机构地区 郑州大学第一附属医院耳科
出处 《中华耳鼻咽喉头颈外科杂志》 CAS CSCD 北大核心 2014年第4期330-332,共3页 Chinese Journal of Otorhinolaryngology Head and Neck Surgery
关键词 耳前瘘管感染 肾综合征 先天性小耳畸形 外耳道狭窄 唇腭裂修补术 误诊 纯音听阈测定 专科检查
分类号 R764.9 [医药卫生—耳鼻咽喉科]
  • 相关文献

参考文献19

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二级参考文献11

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共引文献4

同被引文献63

  • 1宓娴贤,杨胜,沈学萍.一例鳃-耳-肾综合征孕妇的产前诊断[J].中华医学遗传学杂志,2019,36(12):1210-1212. 被引量：4
  • 2严信华,沈平江,王佩兰.先天性耳前瘘管与遗传的关系[J].中国优生与遗传杂志,1993,1(4):47-48. 被引量：1
  • 3Fraser FC,Sproule JR,Halal F,et al.Frequency of the branchio-otorenal(BOR)syndrome in children with profound hearing loss.Am J Med Genet,1980,7(3):341-349.
  • 4Fraser FC,Ling D,Clogg D,et al.Genetic aspects of the BOR syndrome-branchial fistulas,ear pits,hearing loss,and renal anomalies.Am J Med Genet,1978,2(3):241-252.
  • 5Chang EH,Menezes M,Meyer NC,et al.Branchio-oto-renal syndrome:the mutation spectrum in EYA1 and its phenotypic consequences.Hum mutat,2004,23(6):582-589.
  • 6Abdelhak S,Kalatzis V,Heilig R,et al.A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal(BOR)syndrome and identifies a novel gene family.Nat Genet,1997,15(2):157-164.
  • 7Ruf RG,Xu PX,Silvius D,et al.SIX1 mutations cause branchio-otorenal syndrome by disruption of EYA1-SIX1-DNA complexes.Proc Natl Acad Sci USA,2004,101(21):8090-8095.
  • 8Hoskins BE,Cramer CH,Silvius D,et al.Transcription factor SIX5is mutated in patients with branchio-oto-renal syndrome.Am J Hum Genet,2007,80(4):800-804.
  • 9Brophy PD,Alasti F,Darbro BW,et al.Genome-wide copy number variation analysis of a branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.Hum Genet,2013,132(12):1339-1350.
  • 10Schmidt T,Bierhals T,Kortüm F,et al.Branchio-otic syndrome caused by a genomic rearrangement:clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.Cytogenet Genome Res,2014,142(1):1-6.

引证文献11

二级引证文献19

中华耳鼻咽喉头颈外科杂志
2014年 第4期

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