CAJ | 학술논문

目的探讨外周血淋巴细胞空泡检查在溶酶体贮积病的筛查和诊断中的应用价值.方法对2008年1月至2009年12月在我院接受外周血淋巴细胞光镜和电子显微镜检查的疑诊溶酶体贮积病患儿的临床和病理资料进行回顾性分析.结果本组42例患儿均为隐匿起病,均存在进行性智力运动发育落后或倒退,其中32例伴抽搐,3例视力下降,4例肝脾大.本组均接受外周血涂片检查,其中14例外周血淋巴细胞存在异常空泡,这14例中8例经进一步检查确诊为溶酶体贮积病,包括4例淋巴细胞超微结构检查发现曲线体,确诊为神经元蜡样质脂褐质沉积症;2例经酶活性测定分别确诊为异染性脑白质营养不良和糖原累积症Ⅱ型,2例依据骨髓涂片和鞘磷脂酶活性检查诊断为尼曼-匹克病C型;6例未能明确诊断.结论由于方法简单且微创,外周血淋巴细胞异常空泡检查可以用于溶酶体贮积病的筛查.对于疑诊为神经元蜡样质脂褐质沉积症的病例,外周血淋巴细胞超微结构检查有可能提供确诊依据.
목적 탐토외주혈림파세포공포검사재용매체저적병적사사화진단중적응용개치.방법 대2008년1월지2009년12월재아원접수외주혈림파세포광경화전자현미경검사적의진용매체저적병환인적림상화병리자료진행회고성분석.결과 본조42례환인균위은닉기병,균존재진행성지력운동발육락후혹도퇴,기중32례반추휵,3례시력하강,4례간비대.본조균접수외주혈도편검사,기중14예외주혈림파세포존재이상공포,저14례중8례경진일보검사학진위용매체저적병,포괄4례림파세포초미결구검사발현곡선체,학진위신경원사양질지갈질침적증;2례경매활성측정분별학진위이염성뇌백질영양불량화당원루적증Ⅱ형,2례의거골수도편화초린지매활성검사진단위니만-필극병C형;6례미능명학진단.결론 유우방법간단차미창,외주혈림파세포이상공포검사가이용우용매체저적병적사사.대우의진위신경원사양질지갈질침적증적병례,외주혈림파세포초미결구검사유가능제공학진의거.
Objective Lysosomal storage diseases are a group of inherited disorders caused by deficiency of lysosomal enzymes or structural components. The manifestations of lysosomal storage diseases are complicated due to different enzyme deficiency. It has been reported that a range of metabolic diseases resulting in abnormal accumulation of metabolic byproducts may exhibit abnormal cytoplasmic vacuolation of lymphocytes. The aim of this study was to elicit the usefulness of vacuolated peripheral lymphocytes detection in screening and diagnosis of lysosomal storage diseases. Method Clinical data of 42 patients who underwent microscopic and electron microscopic examination of peripheral blood specimens in our department were retrospectively evaluated between January 2008 and December 2009. Result Forty-two patients with the suspected lysosomal storage diseases were included, these patients presented with motor and developmental retardation and/or regression. Seizure occurred in 32 patients. Hepatosplenomegaly were found in 4 patients. Three patients presented with declined visual acuity. Atrophy and/or abnormal signals were detected on cranial CT/MRI images in 24 patients. Blood biochemical tests were normal. Serum levels of ammonia, lactic acid and pyruvate were normal. Serum amino acid profiles and urinary organic acid profiles were normal. Serum fatty acid profiles were normal. Vacuolated lymphocytes were detected on microscopic examination of blood film in 14 patients, and 8 of these patients were confirmed to have lysosomal storage disease. Curvilinear body was found on electronic microscopic examination of peripheral lymphocytes specimens in 4 patients, confirming the diagnosis of neuronal ceroid lipofuscinosis. In 3 of these 4 patients, curvilinear body were also found on electronic microscopic examination of skin and/or muscle specimens. Enzyme analysis confirmed the diagnosis of metachromatic leukodystrophy in one patient and Pompe's disease in another patient. Typical pathological changes were found on the examination of bone marrow in 2 patients with normal acid sphingomyelinase activity. So the patients were diagnosed with Niemann-Pick disease type C. The diagnosis of other 6 patients with vacuolated lymphocytes was unknown.Conclusion Because of its usefulness and minimal invasiveness, vacuolated peripheral lymphocytes examination should be a screening test for lysosomal storage disease. As for patients with suspected neuronal ceroid lipofuscinosis, electron microscopic examination of peripheral lymphocyte specimens may provide specific clues to the final diagnosis.