本文選題：Waardenburg綜合征 + 內(nèi)耳畸形��； 參考：《中國(guó)人民解放軍醫(yī)學(xué)院》2014年碩士論文

【摘要】：Waardenburg綜合征(Waardenburg syndrome，WS)是一種較少見(jiàn)的遺傳性聽(tīng)力-色素異常綜合癥，臨床表現(xiàn)主要為感音神經(jīng)性耳聾、早白發(fā)或額前白發(fā)、虹膜異色、皮膚色素異常、內(nèi)眥異位等。WS根據(jù)其臨床表現(xiàn)分為4型，， WS1型與WS2型在我國(guó)較多見(jiàn)。目前發(fā)現(xiàn)的與WS1及WS2明確相關(guān)的致病基因有：PAX3及MITF、SOX10。研究探討WS的分子遺傳學(xué)特征，了解各基因功的能提，可以提高WS患者的基因診斷率、產(chǎn)前篩查率；分析WS患者內(nèi)耳影像學(xué)的特點(diǎn)，探討基因型與內(nèi)耳畸形之間的相關(guān)性，并對(duì)其人工耳蝸植入術(shù)后的聽(tīng)覺(jué)言語(yǔ)康復(fù)水平進(jìn)行評(píng)估，可以為WS患者手術(shù)前評(píng)估、植入電極的選擇提供參考，對(duì)于提高WS患者聽(tīng)覺(jué)言語(yǔ)水平及生活質(zhì)量，具有重要意義。 收集來(lái)301醫(yī)院耳鼻咽喉頭頸外科就診，根據(jù)臨床表現(xiàn)明確診斷為WS1的雙耳極重度感音神經(jīng)性耳聾患者1例、診斷為WS2的極重度感音神經(jīng)性耳聾患者16例；其中在我科行人工耳蝸植入術(shù)的WS1患者1例、WS2患者14例。對(duì)所有17例WS患者，均行顳骨高分辨率CT、磁共振內(nèi)耳三維重建檢查；對(duì)所有17例WS患者進(jìn)行PAX3、MITF、SOX10基因編碼區(qū)的全部外顯子測(cè)序；并對(duì)15例行人工耳蝸植入術(shù)后的WS患者的聽(tīng)覺(jué)言語(yǔ)康復(fù)效果進(jìn)行評(píng)估。 17例WS患者，共篩查出8例致病突變，其中5例為新發(fā)現(xiàn)的致病突變、3例為已報(bào)道的致病突變。攜帶MITF基因突變的3例WS2患者及攜帶PAX3基因突變的1例WS1患者，影像學(xué)檢查基本正常；攜帶SOX10致病突變的4例WS2患者，影像學(xué)檢查表現(xiàn)為雙側(cè)內(nèi)耳畸形，其中未篩出致病突變的3例患者也表現(xiàn)為雙側(cè)內(nèi)耳畸形。所有15例患者術(shù)中均插入電極順利，術(shù)后言語(yǔ)康復(fù)效果均較佳。
[Abstract]:Waardenburg syndrome (Waardenburg syndrome) is a rare hereditary hearing pigmentation syndrome. Its clinical manifestations are sensorineural deafness, early white hair or prefrontal white hair, iris discoloration and abnormal skin pigmentation. According to the clinical manifestations of ectopic canthus, WS can be divided into 4 types, WS1 type and WS2 type are more common in China. The pathogenicity genes associated with WS1 and WS2 are: PAX3 and MITFSOX10. To study the molecular genetic characteristics of WS, to understand the ability of gene work, to improve the rate of gene diagnosis and prenatal screening in WS patients, to analyze the imaging features of the inner ear of WS patients, and to explore the correlation between genotype and inner ear malformation. The evaluation of the level of auditory speech rehabilitation after cochlear implantation can provide a reference for the pre-operation evaluation and the selection of implanted electrodes in WS patients. It is of great significance to improve the auditory speech level and the quality of life of WS patients. According to clinical manifestations, 1 patient with WS1 and 16 patients with very severe sensorineural deafness diagnosed as WS2 were collected from head and neck surgery of otolaryngology and larynx in 301 Hospital. Cochlear implants were performed in our department. There were 14 cases of WS1 and 14 cases of WS2. All 17 cases of WS were examined by high resolution CTS and 3D reconstruction of inner ear of temporal bone, and all 17 cases of WS were sequenced all exon of PAX3 mite MITFSOX10 gene coding region. The effects of auditory and verbal rehabilitation of 15 WS patients after cochlear implantation were evaluated. Among the 17 WS patients, 8 cases were screened out, among which 5 cases were newly found mutations and 3 cases were reported mutations. Three WS2 patients with MITF gene mutation and one WS1 patient with PAX3 gene mutation had normal imaging examination, and 4 WS2 patients with SOX10 pathogenicity mutation showed bilateral inner ear malformation. Among them, 3 patients with no mutation were also presented with bilateral inner ear malformation. All the 15 patients were successfully inserted into the electrode during operation, and the effect of speech rehabilitation was better after operation.
【學(xué)位授予單位】：中國(guó)人民解放軍醫(yī)學(xué)院
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R764.9

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相關(guān)期刊論文 前2條

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本文編號(hào)：1865647