Howsawi Abdulaziz, Bamefleh Hanaa, Al Jadaan Saud, Crankson Stanley, Alkhilaiwi Rakan, Al-Essa Rakan, Aljahdali Fares, Al Nemari Jameel, Al Aqeely Khalid, Al Howti Sultan, Al Juhaiman Majed, Bin Dajim Nayef
Family Medicine, Medical Administration, Armed Forces Medical Services, Riyadh, Saudi Arabia.
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Glob Pediatr Health. 2019 May 14;6:2333794X19848865. doi: 10.1177/2333794X19848865. eCollection 2019.
: Hirschsprung's Disease (HD) is a motor disorder of the gut caused by the failure of neural crest cells to migrate craniocaudally into the bowel during intestinal development, resulting in a functional obstruction. The majority of patients with HD are diagnosed in the neonatal period when they present with symptoms of distal intestinal obstruction. : This study aims to identify the clinic-pathological characteristic of HD patients in our institution in KSA and comparing it with local and international data. : This retrospective cohort study was conducted in King Abdulaziz Medical City (KAMC), a tertiary care center in Riyadh, Kingdome of Saudi Arabia (KSA). : A total of 54 patients (72% male) were diagnosed with HD. Forty-eight patients (89%) were born at term, and 6 were pre-term. Sixty-three percent of the patients presented in the neonatal period. Twenty-two patients (41%) underwent one-stage endorectal pull-through procedure, 23 patients (43%) two-stage endorectal pull-through, and 9 patients (16%) had three-stage endorectal pull-through. Five out of 54 patients had ganglion cells seen on FS but were absent in the permanent section. Therefore, the concordance rate was 90.8%. : FS biopsy is a necessary method to determine the level of aganglionosis intraoperatively in HD, but the definitive diagnosis should be with permanent section. Also, the choice of surgical operation type (single-stage or multi-stage pull-through) depends on the patient's clinical condition.
先天性巨结肠症（HD）是一种肠道运动障碍性疾病，由神经嵴细胞在肠道发育过程中未能沿头尾方向迁移至肠内所致，从而导致功能性梗阻。大多数HD患者在新生儿期出现远端肠梗阻症状时被诊断出来。本研究旨在确定我们在沙特阿拉伯王国（KSA）机构中HD患者的临床病理特征，并将其与当地和国际数据进行比较。这项回顾性队列研究在沙特阿拉伯利雅得的三级医疗中心阿卜杜勒阿齐兹国王医疗城（KAMC）进行。共有54例患者（72%为男性）被诊断为HD。48例患者（89%）足月出生，6例为早产。63%的患者在新生儿期就诊。22例患者（41%）接受了一期经肛门拖出术，23例患者（43%）接受了二期经肛门拖出术，9例患者（16%）接受了三期经肛门拖出术。54例患者中有5例在冰冻切片上可见神经节细胞，但在永久切片中未见。因此，符合率为90.8%。冰冻切片活检是术中确定HD无神经节细胞症水平的必要方法，但最终诊断应以永久切片为准。此外，手术方式（单期或多期拖出术）的选择取决于患者的临床状况。
