外周血涂片检查对婴儿型庞贝病筛查和诊断的应用价值

Application value of peripheral blood smear in screening and diagnosis of infantile-onset Pompe disease

目的 探讨外周血涂片检查在婴儿型庞贝病(IOPD)筛查和诊断中的价值。方法 回顾分析2013—2017年根据酶学和基因检测确诊的29例IOPD患儿的外周血涂片检查结果,并以同期诊断的12例非IOPD的肥厚型心肌病患儿的血涂片结果作为对照。结果 IOPD组血涂片中可见到大量含空泡的淋巴细胞,含空泡淋巴细胞中位百分比为36%(19%~67%);而对照组中几乎观察不到含空泡的淋巴细胞,含空泡淋巴细胞中位百分比为0%(0%~6.7%)。IOPD组血涂片中可见到大量过碘酸雪夫氏(PAS)染色阳性的淋巴细胞,PAS染色阳性淋巴细胞的中位百分比为36%(19%~66%);而对照组患儿中几乎观察不到PAS染色阳性的淋巴细胞,PAS染色阳性淋巴细胞的中位百分比为0%(0%~6.0%)。两组之间含空泡淋巴细胞以及PAS染色阳性淋巴细胞的百分率差异有统计学意义(P<0.01),且在散点图上的分布无重叠。结论 外周血涂片检查快速、简单、易行,通过观察和计算含空泡和PAS染色阳性的淋巴细胞百分率有助于IOPD的筛查和早期诊断。

Objective To explore the value of peripheral blood smear examination in screening and diagnosis of infantile-onset Pompe disease (IOPD). Method The results of peripheral blood smears in 29 children diagnosed with IOPD by enzymology and gene testing from 2013 to 2017 were retrospectively analyzed. Control values were obtained from 12 patients diagnosed with non-IOPD hypertrophic cardiomyopathy during the same period. Results A large number of vacuolar lymphocytes were found in the blood smear of IOPD group, and the median percentage of vacuolar lymphocytes was 36%(19%- 67%). However, in the control group, almost no vacuolar lymphocytes were observed, and the median percentage of vacuolated lymphocytes was 0%(0%- 6.7%). A large number of periodic acid-schiff (PAS) positive lymphocytes were found in the blood smears of IOPD group, and the median percentage was 36%(19%- 66%). In control group, almost no PAS-positive lymphocytes were observed, and the median percentage of that was 0%(0%- 6.0%). The percentages of vacuolar lymphocyte and PAS positive lymphocytes between the two groups had significant difference (P < 0.01), and there was no overlap in the scatter plot. Conclusion Peripheral blood smear examination is quick, simple and easy to perform. Observation and calculation of percentages of vacuolar and PAS positive lymphocyte are helpful for screening and early diagnosis of IOPD.