一种非肌性肌球蛋白重链9基因突变相关疾病——Fechtner综合征一例报告并文献复习

Fechtner syndrome, a nonmuscle myosin heavy chain 9 gene mutation related disease： a case report and literature review

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（Doehle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。

Objective 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 （Dtihle-like bodies ） were found in both peripheral blood and bone marrow 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 Feehtner syndrome is established.