目的：探讨中国人X连锁Alport综合征患者的听力表型与皮肤组织Ⅳ型胶原α5链表达的关系。方法收集2008年8月至2013年8月期间确诊为X连锁Alport综合征的31例患者临床资料，采用纯音听阈测试或ABR＋40Hz相关电位检查＋声导抗＋耳声发射的方式进行听力评估，并采用免疫组化染色检测皮肤组织基膜Ⅳ型胶原α5链的表达，采用Pearson相关分析方法分析二者的关系。结果31例X连锁Alport综合征中听力下降患者均表现为轻、中度感音神经性聋。听觉损害共28例（90.3%），其中22例男性中中度12例，轻度5例，轻微损害5例；女性6例，轻度3例，轻微损害3例。按皮肤Ⅳ胶原α5链染色分级,阴性17例均为男性，其中听力正常4例（3例OAE异常），听力下降13例（轻度4例，中度9例）；大部阴性与可疑阳性各1例，均为男性，分别为中度和轻度；连续±2例(男性)，正常和中度各1例；间断阳性3例均为女性，均为正常或轻度；连续＋＋7例(男3,女4)，其中听力正常4例，听力下降3例（2例轻度，1例中度）。染色阴性的11例听力下降患者听阈与年龄呈正相关（P=0.043，r=0.616）。结论X连锁Alport综合征患者皮肤组织Ⅳ胶原α5链的表达男性低于女性，听力表现与皮肤组织Ⅳ胶原α5链的表达有一定的关系，其中Ⅳ胶原α5链表达阴性的患者听力下降程度与年龄存在相关性，但也存在听力正常的患者，说明还有其他因素影响患者的听力。皮肤组织中Ⅳ胶原α5链表达在一定程度上能反映耳蜗基底膜中Ⅳ胶原α5链的表达和功能。%Objective To study the relationship between the expression distribution of collagen typeⅣα5 chain (α5 (Ⅳchain) within the skin and hearing phenotype in Chinese individuals with X-linked Alport syndrome (XLAS). Methods The clinical data of 31 cases diagnosed with XLAS between 2008 August and 2013 August were reviewed. All the patients un-derwent pure tone audiometry or ABR+40Hz related potential, acoustic immitance and otoacoustic emission tests to evaluate hearing. The expression ofα5 (Ⅳ) chain within basilar membrane of skin tissue was detected by immunohistochemical stain-ing. Pearson statistical analysis was used for data analysis. Results Among the 31 cases of XLAS, 20 were found to have mild or moderate sensorineural hearing loss, and 8 were found to have abnormal OAEs. Hearing impairment was found in 28 cases (90.3%), including 22 males (moderate hearing loss=12, mild hearing loss=5, slight hearing damage=5) and 6 females (mild hearing loss=3, slight hearing damage=3).α5 (Ⅳ) chain staining within skin was negative in 17 males (4 with normal hearing, although 3 cases with abnormal OAEs), and in 13 cases with hearing loss (mild=4, moderate=9). Staining was nega-tive or marginally positive in 2 males with moderate or mild hearing loss;continuously ± in 2 males with normal or moderate hearing loss;intermittently positive in 3 females with normal or mild hearing loss;and continuously++in 7 cases (3 males and 4 females), including 4 cases with normal hearing and 3 cases with hearing loss (mild=2 and moderate=1). The hearing level in 11 cases with hearing loss and negativeα5 (Ⅳ) chain staining was positively correlated with age. Conclusion Expres-sion ofα5 (Ⅳ) chain within skin tissue is lower in males than in females with XLAS, with certain relationship to the hearing level. The degree of hearing loss is related with age in young males with XLAS and negative expression ofα5 (Ⅳ) chain with- in skin tissue. The few cases of XLAS with normal hearing and negative expression ofα5 (Ⅳ) chain within skin tissue may suggest that factors other than age and expression ofα5 (Ⅳ) chain can also influence the patient's hearing. Expression ofα5 (Ⅳ) chain within skin tissue can reflect expression and functioning ofα5 (Ⅳ) chain in the basilar membrane of the cochlea to a certain extent.
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