Clare N M, Montiel M M, Lifschitz M D, Bannayan G A
Am J Clin Pathol. 1979 Jul;72(1):111-7. doi: 10.1093/ajcp/72.1.111.
The combined occurrence of hereditary nephritis with nerve deafness (Alport's syndrome) and macrothrombocytopathic thrombocytopenia is very rare. The authors have had the opportunity to study such a case in a 20-year-old man who had been followed since birth. The clinical history, renal biopsy, platelet studies, and autopsy findings are presented. The renal pathologic findings are well defined; however, the hemostatic abnormalities and the hearing loss are not well characterized. In this paper, an attept is made to clarify the diverse platelet functional and morphologic abnormalties.
遗传性肾炎合并神经性耳聋（阿尔波特综合征）与巨血小板性血小板减少症同时出现的情况非常罕见。作者有机会对一名自出生起就接受随访的20岁男性患者进行了此类病例的研究。现呈现其临床病史、肾活检、血小板研究及尸检结果。肾脏病理表现明确；然而，止血异常和听力损失的特征尚不明确。本文试图阐明血小板功能和形态的各种异常情况。
