目的 :调查Alport综合征一家系的遗传方式及临床特点。方法 :对该家系 (4 5人 )进行家系调查、体格检查、实验室检查、病理检查及超微结构检查。结果 :该家系中 2位先证者各项检查均符合Alport综合征的诊断标准。该家系发病率为 33.3% ,为性连锁显性遗传 (XD) ,其蛋白尿、血尿发生率分别为 2 8.9%和 5 7.9% ,眼病、神经性耳聋发生率分别为 5 2 .6 %和 15 .8%。结论 :XD -Alport综合征的血尿和眼病发生率较高 ,可仅有血尿而无蛋白尿 ,临床上应特别注意。 Objective: To investigate the genetic mode and clinical features of Alport syndrome family. Methods: Pedigrees, physical examination, laboratory tests, pathological examination and ultrastructure examination of the pedigree (45) were conducted. Results: All the 2 probands in this pedigree met the diagnostic criteria of Alport syndrome. The incidence of this family was 33.3%, which was XD. The incidences of albuminuria and hematuria were 8.92% and 59.9% respectively. The incidence rates of eye diseases and neurological deafness were 52.6% and 15.8%. Conclusion: The incidence of hematuria and ocular disease in XD-Alport syndrome is high, but only hematuria and no proteinuria. Special attention should be paid clinically.