钙视网膜蛋白和乙酰胆碱酯酶在新生儿先天性巨结肠症直肠黏膜活检病理诊断中的应用

Evaluation of Calretinin and AchE in pathological diagnosis for rectal mucosa biopsy of neonatal Hirschsprung＇s disease

目的 探讨钙视网膜蛋白（calretinin,CR）和乙酰胆碱酯酶（acetylcholinesterase,AchE）在新生儿先天性巨结肠症（Hirschsprung＇s disease,HSCR）直肠黏膜活检病理诊断中的应用价值.方法 收集2015年1月至2016年1月新生儿直肠黏膜活检标本62例.此62例患儿均有出生后反复出现腹胀、便秘、胎便延迟和/或呕吐等症状,临床诊断或疑诊HSCR.其中,男47例,女15例;年龄为3～28 d,平均17 d.在显微镜下观察黏膜下神经节细胞和神经纤维直径,免疫组织化学标记CR和酶组织化学染色AchE.根据直肠黏膜活检标本黏膜下HE染色有、无神经节细胞将患儿分为非HSCR组和HSCR组,比较两组CR和AchE的表达.结果 HSCR组（49例）无髓鞘神经纤维直径在30～70μm,平均49.6μm;其中直径≥40μm 42例（85.7％）,〈40μm 7例（14.3％,30～38μm）.CR无阳性表达患儿.AchE阳性45例（91.8％）,阴性4例（8.2％）.非HSCR组（13例）无髓鞘神经纤维直径〈25μm者12例（92.3％）;神经纤维直径35μm者1例（7.7％）.CR阳性13例（100％）;AchE阳性1例（7.7％）,阴性12例（92.3％）.CR表达在HSCR诊断中的敏感性和特异性为100％（12/12）,98.0％（49/50）;阳性预测值为92.3％（12/13）,阴性预测值为100％（49/49）.AchE在HSCR诊断中的敏感性和特异性分别为93.9％（46/49）和100％（12/12）,阳性预测值100％ 为（46/46）,阴性预测值为75.0％（12/16）.结论 直肠黏膜活检HE染色结合CR和AchE的病理诊断,有助于提高新生儿HSCR病理诊断准确率,具有较好的应用价值.

Objective To explore the values of Calretinin （CR）and acetylcholinesterase （AchE） in pathological diagnosis for rectal mucosa biopsy of neonatal Hirschsprung＇s disease （HSCR）. Methods A total of 62 neonatal HSCR cases were examined for rectal mucosa biopsy during January 2015 to January 2016. The predominant symptoms included recurrent abdominal distension, constipation,meconium delay and/or vomiting.There were 47 boys and 15 girls with an average age of 17（3-28）days.Ganglion cells and nerve fibers were observed microscopically.And Calretinin was detected by immunohistochemistry and AchE by histochemistry.They were divided into HSCR and non-HSCR groups by hematoxylin ＆ eosin （HE）stain.Results In HSCR group （n =49）,ganglion cells were absent and the average diameter of nerve fiber was 49.6（30-70）mm.And the diameter was≥40 mm （n=42,85.7％）and 〈40 mm （n=7,14.3％,30-38 mm）.The negative expression of CR was （n=4,8.2％）and the positive expression of AchE （n=45,91 .8％）.In non-HSCR group （n=13）,ganglion cells were observed in all cases.And the diameter of nerve fiber was 〈25 mm （n=12, 92.3％）and 35 mm （n=1 ,7.7％）.The positive expression of CR was （n = 13,100％）and AchE （n=1 ,7.7％）.The value of CR in HSCR diagnosis：sensitivity 100％ （12/12）,specificity 98.0％（49/50）,positive predict value 92.3％（12/13）and negative predict value 100％（49/49）.The value of AchE in HSCR diagnosis was as follows：sensitivity 93.9％ （46/49 ）,specificity 100％ （12/12 ）, positive predict value 100％ （46/46）and negative predict value 75.0％ （12/16）.Conclusions Rectal mucosa biopsy by HE staining and expression of CR and AchE are reliable for making a pathological diagnosis of neonatal HSCR.