表现为巨大血小板减少与溶血性贫血的植物固醇血症1例并文献复习

Phtosterolemia with macrothrombocytopenia and hemolysis as initial manifestations:a case report and literature review

目的:研究1例仅表现为巨大血小板减少和溶血性贫血的植物固醇血症家系的临床表型及基因诊断。方法:高效液相色谱法检测血浆中豆固醇、二氢胆固醇和谷固醇的含量;光学显微镜法观察红细胞及血小板形态;PCR法扩增先证者ABCG5和ABCG8基因外显子和侧翼序列,针对先证者的突变位点,对其家系成员进行相应片段基因的检测。结果:患者外周血涂片可见血小板体积增大,甚至达红细胞大小;异形红细胞增多,如口形红细胞;血浆中植物固醇含量显著升高;基因分析发现ABCG5G19839A(R419H)突变。结论:血浆中植物固醇含量升高引起巨大血小板减少和溶血性贫血,深入了遗传性血小板减少的发病原因的研究。

Objective： To study the clinical features and ABCGS/ABCG8 gene mutations of the pedigree of phytosterolemia manifested of macrothrombocytopenia and hemolysis. Method：The plasma sterol levels were meas- ured by high pressure/performance liquid chromatography method. Erythrocyte and platelet morphology were ex- amined by light microscope. All of ABCG5 and ABCG8 exons and intron-exon boundaries were directly sequenced to identify mutations,and the corresponding gene mutation sites were determined in three family members. Result： The blood smears showed large platelets,some as large as erythrocytes, and abnormal erythrocyte shapes, such as stomatocytes. Plasma concentrations of phytosterols were markedly elevated in the affected patient. A mutation i- dentified in the patient was ABCG5 G19839 A （ R419 H）. Conclusion： The maerothrombocytopenia and haemolysis are caused by an increase of phytosterols in the plasm. It may embed the study on reasons of inherited thrombocy- topenia.