文章基本信息

标题：Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy
作者：Akira Suzuki ; Hironori Nagasaka ; Yasuhiro Ochi 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2014
卷号：1
页码：249-253
DOI：10.1016/j.ymgmr.2014.05.001
出版社：Elsevier B.V.
摘要：Abstract Adipose triglyceride lipase (ATGL) deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy presents distinct fat-containing vacuoles known as Jordans' anomaly in peripheral leucocytes. To develop an automatic notification system for Jordans' anomaly in ATGL-deficient patients, we analyzed circulatory leukocyte scattergrams on automated hematology analyzer XE-5000. The BASO-WX and BASO-WY values were found to be significantly higher in patients than those in non-affected subjects. The two parameters measured by automated hematology analyzer may be expected to provide an important diagnostic clue for homozygous {ATGL} deficiency.
关键词：Adipose triglyceride lipase deficiency; Automated hematology analyzer; BASO-WX and BASO-WY; Circulatory neutrophils; Jordans' anomaly; Triglyceride deposit cardiomyovasculopathy