CAJ | 학술논문

目的探讨戈谢病的临床特点、诊断和治疗方法.方法总结3例戈谢病患儿的临床表现、骨髓或组织病理特点等临床资料.结果 3例患儿的共同临床表现为生长发育落后、脾肿大、肝肿大、血小板减少、贫血,骨髓细胞学检查可见大量典型戈谢细胞.例1伴有智力低下及骨质疏松;例2伴有惊厥等神经系统症状及骨痛,脾病理检查可见典型戈谢细胞;例1和例3外周血白细胞葡萄糖脑苷脂酶活性均明显下降(＜正常值的15％).例1诊断后即予足量酶替代治疗,6个月后肝脾肿大等临床表现明显缓解,治疗6年后由于没有足量用药而逐渐出现骨骼损害;例2经脾切除及对症治疗后神经系统症状仍进行性加重;例3暂未开始治疗.结论对以肝脾肿大就诊的患儿,要注意戈谢病的可能性,避免漏诊和误诊.骨髓细胞学及酶学检查具有诊断意义.治疗上以对症为主,有条件者予酶替代治疗.
목적 탐토과사병적림상특점、진단화치료방법.방법 총결3례과사병환인적림상표현、골수혹조직병리특점등림상자료.결과 3례환인적공동림상표현위생장발육락후、비종대、간종대、혈소판감소、빈혈,골수세포학검사가견대량전형과사세포.례1반유지력저하급골질소송;례2반유량궐등신경계통증상급골통,비병리검사가견전형과사세포;례1화례3외주혈백세포포도당뇌감지매활성균명현하강(＜정상치적15％).례1진단후즉여족량매체대치료,6개월후간비종대등림상표현명현완해,치료6년후유우몰유족량용약이축점출현골격손해;례2경비절제급대증치료후신경계통증상잉진행성가중;례3잠미개시치료.결론 대이간비종대취진적환인,요주의과사병적가능성,피면루진화오진.골수세포학급매학검사구유진단의의.치료상이대증위주,유조건자여매체대치료.
Objective To investigate the clinical characteristics,diagnosis and treatment of Gaucher disease.Methods To summarize the clinical data of 3 cases of Gaucher disease with clinical manifestations,pathological features of bone marrow.Results The common clinical manifestation of 3 cases was growth retardation,splenomegaly,hepatomegaly,thrombocytopenia and anemia,bone marrow cytology examination showed typical Gaucher cells.Case 1 had mental retardation and osteoporosis.Case 2 with convulsions and other symptoms of the nervous system and bone pain,pathological examination showed typical Gaucher cells of spleen.In cases 1 and 3,peripheral white blood cells of glucocerebrosidase activity were significantly decreased (＜ 15％of the normal value).Case 1 was given sufficient enzyme replacement therapy after diagnosis,hepatosplenomegaly,clinical manifestation was relieved after 6 months,after 6 years of treatment it gradually appeared bone damage because of the lack of adequate medication.In case 2 with spleen excision and symptomatic treatment,but symptoms of nervous system was still progressive.Case 3 didn't start treatment yet.Conclusion For children with hepatosplenomegaly,we should pay attention to the possibility of Gaucher disease.Bone marrow cytology and enzymology check has diagnostic significance.In the treatment of symptoms,enzyme replacement therapy may be the best choice.