Mukhopadhyay Bedabrata, Sengupta Moumita, Das Chhanda, Mukhopadhyay Madhumita, Barman Shibsankar, Mukhopadhyay Biswanath
Department of Biochemistry, IMS, BHU, Varanasi, Uttar Pradesh, India.
Department of Pathology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
J Lab Physicians. 2017 Apr-Jun;9(2):76-80. doi: 10.4103/0974-2727.199623.
Hirschsprung's disease (HD) is the major cause of pediatric intestinal obstruction with a complex pattern of inheritance. The absence of ganglion cells along with an analysis of hypertrophy and hyperplasia of nerves in the nerve plexus of submucosa and muscularis mucosae is regarded as a potential hallmark for its diagnosis.
This study was undertaken to ascertain the (1) clinical profile, (2) mode of presentation, and (3) to compare the role of calretinin immunostaining with acetylcholinesterase in the diagnosis of HD.
This prospective and observational study was conducted in the Department of Pathology, IPGME & R from June 2014 to May 2015. One hundred and four patients clinically and radiologically diagnosed with HD underwent surgery were included in the study. The data of every patient including age, sex, and presenting symptoms were recorded. Eventually, histopathological, calretinin, and acetylcholinesterase immunohistochemical examination were done.
Total numbers of cases studied were 104, which aged between 0 days and 365 days. Male preponderance (76.92%) was noted. The overall sensitivity, specificity, positive, and negative predictive value of acetylcholinesterase were 100%, 86.44%, 84.91%, and 100%, respectively. The concordance of detection of ganglion cells and nerve fibers, and thereby diagnosis of Hirschsprung's and non-HD using calretinin and the gold standard was statistically in strong agreement ( = 0.749, 95% confidence interval: 0.635-0.863).
Calretinin stands out as the single and indispensable tool that differentiates HD from other mimickers.
先天性巨结肠（HD）是小儿肠梗阻的主要原因，其遗传模式复杂。黏膜下层和黏膜肌层神经丛中神经节细胞的缺失以及神经肥大和增生的分析被视为其诊断的潜在标志。
本研究旨在确定（1）临床特征，（2）表现方式，以及（3）比较钙视网膜蛋白免疫染色与乙酰胆碱酯酶在HD诊断中的作用。
本前瞻性观察研究于2014年6月至2015年5月在IPGME&R病理学系进行。104例临床和放射学诊断为HD并接受手术的患者纳入研究。记录每位患者的年龄、性别和症状等数据。最终进行了组织病理学、钙视网膜蛋白和乙酰胆碱酯酶免疫组化检查。
共研究104例病例，年龄在0天至365天之间。男性占优势（76.92%）。乙酰胆碱酯酶的总体敏感性、特异性、阳性和阴性预测值分别为100%、86.44%、84.91%和100%。使用钙视网膜蛋白检测神经节细胞和神经纤维以及由此诊断先天性巨结肠和非HD与金标准的一致性在统计学上有高度一致性（=0.749，95%置信区间：0.635 - 0.863）。
钙视网膜蛋白是将HD与其他类似疾病区分开来的单一且不可或缺的工具。
