摘要目的 提高对Fechtner综合征(FTNS)的认识.方法 报告1例FTNS患者的临床和实验室检查资料及其家系调查,包括外周血和骨髓涂片的细胞形态学检查(瑞特-姬姆萨染色).结果 患者外周血涂片和骨髓穿刺涂片中均发现巨大血小板、血小板减少和粒细胞内存在包涵体(D(o)hle样小体).同时患者还有肾脏损害、感音性失聪以及玻璃体病变.经家系调查发现此病例有家族遗传倾向.结论 该病例具有巨大血小板、血小板减少、粒细胞内包涵体和FTNS的典型临床表现,综合各种检查结果和临床表现,FTNS的诊断成立.

abstractsObjective To improve the recognition of Fechtner syndrome. Methods The clinical and laboratory data and family survey of a patient with Fechtner' s syndrom was reported. Results and conclusion Giant platelets, thrombocytopenia and characteristic granulocyte inclusion bodies (D(o)hle-like bodies) were found in both peripheral blood and bonemarrow smears of the patient. Clinically the patient had renal damage, nervous deafness, and vitreous lesions. There was a family genetic tendency on family survey the diagnosis of Fechtner syndrome is established.