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目的总结Alport综合征的临床表现,尤其是眼部特征。方法回顾性分析32例被确诊为Alport综合征患者的内科、耳鼻喉科和眼科检查结果。结果所有患者均有不同程度的肾脏病变:18例有肾衰,4例肾功能不全,10例血尿。20例患者有感音神经性耳聋。13例患者有眼部异常表现,其中5例为典型性改变:前圆锥晶体3例,黄斑周围斑点2例。结论眼部异常不是Alport综合征诊断的必需条件,但因其典型的眼科表现应当引起眼科医师的注意。
Objective To summarize the clinical manifestations of Alport syndrome, especially the ocular features. Methods The clinical, otolaryngological and ophthalmological findings of 32 patients diagnosed with Alport syndrome were retrospectively analyzed. Results All patients had varying degrees of renal disease: 18 with renal failure, 4 with renal insufficiency, and 10 with hematuria. Twenty patients had sensorineural deafness. Thirteen patients had ocular abnormalities, of which 5 were typical changes: 3 cases of anterior cone crystals and 2 cases of macular spots. Conclusion Ocular abnormality is not a necessary condition for the diagnosis of Alport syndrome, but should be noted by ophthalmologists because of its typical ophthalmic findings.