Cochlear Implantation Intervention in A Suspected Alport Syndrome Patient with Common Cavity Malformation

WANG Qian; DU Hai-qiao; WANG Shu-wei; LI Jia-nan

doi:10.3969/j.issn.1672-4933.2025.01.006

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Cochlear Implantation Intervention in A Suspected Alport Syndrome Patient with Common Cavity Malformation

Cochlear Implantation in Complex Cases | 更新时间：2026-07-11

- Cochlear Implantation Intervention in A Suspected Alport Syndrome Patient with Common Cavity Malformation
- Chinese Scientific Journal of Hearing and Speech Rehabilitation Vol. 23, Issue 1, Pages: 19-21(2025)
- 作者机构：
  
  解放军总医院第六医学中心耳鼻咽喉头颈外科医学部/国家耳鼻咽喉疾病临床医学研究中心/听觉与平衡觉全国重点实验室北京 100853
- 作者简介：
- 基金信息：
- DOI：10.3969/j.issn.1672-4933.2025.01.006
  CLC： R764.43
- Received：13 September 2024，
  
  Published：15 January 2025
- 稿件说明：
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王倩,杜海侨,王淑为等.1例疑似Alport综合征合并共同腔畸形患者人工耳蜗植入报道[J].中国听力语言康复科学杂志,2025,23(01):19-21.

WANG Qian,DU Hai-qiao,WANG Shu-wei,et al.Cochlear Implantation Intervention in A Suspected Alport Syndrome Patient with Common Cavity Malformation[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2025,23(01):19-21.
王倩,杜海侨,王淑为等.1例疑似Alport综合征合并共同腔畸形患者人工耳蜗植入报道[J].中国听力语言康复科学杂志,2025,23(01):19-21. DOI： 10.3969/j.issn.1672-4933.2025.01.006.

WANG Qian,DU Hai-qiao,WANG Shu-wei,et al.Cochlear Implantation Intervention in A Suspected Alport Syndrome Patient with Common Cavity Malformation[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2025,23(01):19-21. DOI： 10.3969/j.issn.1672-4933.2025.01.006.

摘要

目的

对1例疑似Alport综合征的患者进行人工耳蜗植入后随访，探讨其干预后听力语言康复效果。

方法

整理患者人工耳蜗植入前的病历资料、人工耳蜗植入手术、术后调机与评估资料。

结果

该患儿以发现听力差5月余为主诉入院。颞骨CT显示左侧中耳炎、双侧内耳共同腔畸形。基因报告结果显示，发现1个高度可疑变异：

NM_033380.3（COL4A5）：c.1331T>G （p.Ile444Ser）

。患儿行人工耳蜗植入术后5年，各电极阻抗结果均在正常范围内（

15 kΩ），患儿可配合儿童行为测听方法完成电刺激阈值调试，12对电极全部打开，对大声音无不舒适感受，可分辨林氏六音。经康复后可进行日常对话，发音个别字不清晰。意义听觉整合量表（meaningful auditory integration scale，MAIS）37分，言语可懂度分级问卷（SIR）得分4分，听觉行为分级标准（CAP）得分6分。助听听阈在30～45 dB HL，双音节言语识别率80%，安静条件下句子识别率84%。

结论

疑似Alport综合征合并共同腔患者通过人工耳蜗植入及调机可以获得较好的干预效果。

Abstract

Objective

To investigate the effect of cochlear implantation on hearing and speech rehabilitation for a patient with suspected Alport syndrome.

Methods

The case data of patients before cochlear implantation

cochlear implantation surgery

postoperative cochlear mapping results and evaluation data were sorted out.

Results

The patient was admitted to the hospital with the main complaint of "finding the hearing loss of the child for more than

5 months". CT of temporal bone showed left otitis media and common cavity malformation of bilateral inner ears. Gene report results showed that a highly suspicious mutation was found:

NM_033380.3 (COL4A5): c.1331t>g (p.ile444ser)

. Five years after cochlear implantation

the impedance results of each electrode were within the normal range (

15 kΩ). The child could complete the electrical stimulation threshold test with the child behavior audiometry method. All 12 pairs of electrodes were open

without discomfort to loud sound. The child could distinguish Lin's six tones. After rehabilitation

the child could have daily conversation

but his pronunciation was not clear enough. The questionnaire result showed that MAIS scored 37 points

SIR scored 4 points and CAP scored 6 points. The hearing threshold was 30-45dB HL. The syllable test result was 80%

and sentence in quiet was 84%.

Conclusion

The patients with suspected Alport syndrome combined with common cavity can obtain a good intervention effect by cochlear implantation and mapping.

关键词

Keywords

references

Savige J , Ariani F , Mari F , et al . Expert consensus guidelines for the genetic diagnosis of Alport syndrome [J ] . Pediatr Nephrol , 2019 , 34 ( 7 ): 1175 - 1189 .

Mallett A , Tang W , Clayton PA , et al . End-stage kidney disease due to Alport syndrome: Outcomes in 296 consecutive australia and new zealand dialysis and transplant registry cases [J ] . Nephrol Dial Transplant , 2014 , 29 ( 12 ): 2277 - 2286 .

Hattori M , Sako M , Kaneko T , et al . End-stage renal disease in Japanese children: A ,nationwide survey during 2006-2011 [J ] . Clin Exp Nephrol , 2015 , 19 ( 5 ): 933 - 938 .

Alport综合征协作组 , 国家肾脏疾病临床医学研究中心 . Alport综合征诊治专家共识(2023版) [J ] . 中华医学杂志 , 2023 , 103 ( 20 ): 1507 - 1525 .

赵颖玲 , 于力 . Alport综合征的临床表现及诊疗进展 [J ] . 罕少疾病杂志 , 2022 , 29 ( 4 ) : 1 - 4 .

Gibson JT , Sadeghi-Alavijeh O , Gale DP , et al . Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome [J ] . Sci Rep , 2022 , 12 ( 1 ): 11257 - 11267 .

倪婕 , 陈植 , 凌晨 , 等 . 儿童Alport综合征的临床,病理及基因分析全文替换 [J ] . 罕见病研究 , 2022 , 1 ( 3 ): 259 - 267 .

Yamamura T , Nozu K , Fu XJ , et al . Natural history and genotypephenotype correlation in female x-linked alport syndrome [J ] . Kidney Int Rep , 2017 , 2 ( 5 ): 850 - 855 .

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