中华耳科学杂志
中華耳科學雜誌
중화이과학잡지
CHINESE JOURNAL OF OTOLOGY
2014年
1期
19-22
,共4页
黄莎莎%黄邦清%董敏%孟肖肖%戴朴
黃莎莎%黃邦清%董敏%孟肖肖%戴樸
황사사%황방청%동민%맹초초%대박
耳聋%大前庭水管综合征(单侧)%SLC26A4
耳聾%大前庭水管綜閤徵(單側)%SLC26A4
이롱%대전정수관종합정(단측)%SLC26A4
hearing loss%Unilateral enlarged vestibular aqueduct syndrome%SLC26A4
目的：分析SLC26A4基因突变在中国单侧大前庭水管综合征耳聋患者中的分布，探讨单侧大前庭水管综合征的致病因素。方法回顾性分析行SLC26A4基因全序列分析的17例经颞骨CT和听力学检查确诊为单侧大前庭水管综合征的耳聋患者，基因突变检测分布；447例双侧大前庭水管综合征患者的SLC26A4基因突变分布情况作为对照组。结果单侧大前庭水管综合征患者中SLC26A4基因阳性检出率29.41%（5/17），明显低于双侧大前庭水管综合征患者的检出率95.97%（429/447）（P<0.01）。结论单侧前庭水管扩大的发病可能是与SLC26A4以外的其他因素尚存在联系。
目的：分析SLC26A4基因突變在中國單側大前庭水管綜閤徵耳聾患者中的分佈，探討單側大前庭水管綜閤徵的緻病因素。方法迴顧性分析行SLC26A4基因全序列分析的17例經顳骨CT和聽力學檢查確診為單側大前庭水管綜閤徵的耳聾患者，基因突變檢測分佈；447例雙側大前庭水管綜閤徵患者的SLC26A4基因突變分佈情況作為對照組。結果單側大前庭水管綜閤徵患者中SLC26A4基因暘性檢齣率29.41%（5/17），明顯低于雙側大前庭水管綜閤徵患者的檢齣率95.97%（429/447）（P<0.01）。結論單側前庭水管擴大的髮病可能是與SLC26A4以外的其他因素尚存在聯繫。
목적：분석SLC26A4기인돌변재중국단측대전정수관종합정이롱환자중적분포，탐토단측대전정수관종합정적치병인소。방법회고성분석행SLC26A4기인전서렬분석적17례경섭골CT화은역학검사학진위단측대전정수관종합정적이롱환자，기인돌변검측분포；447례쌍측대전정수관종합정환자적SLC26A4기인돌변분포정황작위대조조。결과단측대전정수관종합정환자중SLC26A4기인양성검출솔29.41%（5/17），명현저우쌍측대전정수관종합정환자적검출솔95.97%（429/447）（P<0.01）。결론단측전정수관확대적발병가능시여SLC26A4이외적기타인소상존재련계。
Objective To determine the prevalence of SLC26A4 mutation in the patients with unilateral enlarged ves-tibular aqueduct syndrome, and explore the risk factors of the unilateral enlarged vestibular aqueduct syndrome. Methods All patients with hearing test and temporal bone CT scan received the genetic tests in coding region of SLC26A4, and the pa-tients were divided into two groups according to the temporal bone CT:unilateral and bilateral enlarged vestibular aqueduct. Results The positive rate of SLC26A4 in patients with unilateral enlarged vestibular aqueduct (29.41%) was significantly lower than that in patients with bilateral large vestibular aqueduct (95.97%). (P<0.01) Conclusion Unilateral EVA is not as-sociated with SLC26A4 and may have a different etiology.
