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目的探讨嘌呤P2Y1受体与先天性巨结肠(HD)发病的关系。方法选取郑州大学第三附属医院小儿外科20例HD患儿手术切除结肠的狭窄段和扩张段全层组织。20例HD患儿均根据临床症状、体征、钡灌肠、术中所见及病理检查证实为HD。男13例,女7例;手术年龄为10 d~2岁,平均4个月。常见型13例,长段型5例,短段型2例。另取20例直肠黏膜脱垂切除的正常结肠组织作为对照。采用反转录(RT)-PCR检测P2Y1受体基因在所取标本中的表达。结果 P2Y1受体基因在HD狭窄段肠管全层无表达(表达阳性率为0),其在HD扩张段表达减少(阳性率为45%),在正常肠管组织正常表达(阳性率为86.5%)。P2Y1受体基因在狭窄段表达水平与其在扩张段和正常结肠组织的表达水平差异均有统计学意义(Pa=0.000);P2Y1受体基因在HD扩张段肠管表达水平与其在正常肠管表达水平比较差异无统计学意义(P=0.914)。结论 P2Y1受体基因在结肠中表达缺乏可能是HD发病的重要原因之一,同时也是肠动力障碍的一个重要原因。
Objective To explore the relationship between the purine P2Y1 receptor and the pathogenesis of Hirschsprung’s disease. Methods Twenty cases of HD with surgical resection of the colon were dissected from the pedicle of the third affiliated hospital of Zhengzhou University. 20 cases of HD children were based on clinical symptoms, signs, barium enema, intraoperative findings and pathological examination confirmed HD. 13 males and 7 females. The operative age ranged from 10 days to 2 years with an average of 4 months. 13 cases of common type, long segment in 5 cases, short segment in 2 cases. Another 20 cases of rectal mucosal prolapse resection of normal colon tissue as a control. Reverse transcription (RT) -PCR was used to detect the expression of P2Y1 receptor gene in the samples. Results The P2Y1 receptor gene was not expressed in the whole intestine of the narrow segment of HD (positive expression rate was 0). The expression of P2Y1 receptor gene was decreased in the HD expansion stage (positive rate was 45%), normal expression in normal intestinal tissue (positive rate was 86.5%), . The expression level of P2Y1 receptor gene in the stenotic segment was significantly different from that in the extended segment and normal colorectal tissue (Pa = 0.000). The expression of P2Y1 receptor gene in the HD segment was similar to that in normal bowel The difference was not statistically significant (P = 0.914). Conclusions The lack of expression of P2Y1 receptor gene in the colon may be one of the important causes of HD. It is also an important cause of intestinal motility disorder.