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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:患者30例(93.7%)有疾病家族史。所有患者均有不同程度的肾脏病变:18例(56.3%)有肾功能衰竭,4例(12.5%)肾功能不全,10例(31.3%)血尿。患者20例(62.5%)有感音神经性耳聋。患者13例(40.6%)有眼部异常表现,其中5例(15.6%)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,以便早期诊断治疗。
Objective: To summarize the clinical manifestations of Alport syndrome, especially the ocular characteristics. METHODS: The clinical, otolaryngological and ophthalmic findings of 32 patients with Alport syndrome who were diagnosed were retrospectively analyzed. Results: 30 patients (93.7%) had a family history of disease. All patients had varying degrees of renal disease: 18 (56.3%) had renal failure, 4 (12.5%) had renal insufficiency and 10 (31.3%) had hematuria. Twenty patients (62.5%) had sensorineural deafness. Thirteen patients (40.6%) had ocular abnormalities, of which 5 (15.6%) were typical changes: 3 cases of anterior conical crystals and 2 cases of macular spots. CONCLUSIONS: Ocular abnormality is not a necessary condition for the diagnosis of Alport’s syndrome. However, due to its typical ophthalmic findings, eye doctors should pay attention to early diagnosis and treatment.