Rintala Risto J, Pakarinen Mikko P
Section of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Finland.
Semin Pediatr Surg. 2012 Nov;21(4):336-43. doi: 10.1053/j.sempedsurg.2012.07.008.
Despite significant developments in the understanding of the pathologic anatomy and physiology of Hirschsprung's disease (HD), the results of surgical therapy remain far from perfect. The functional defects and psychosocial difficulties that occur commonly in children with HD are passed on to adulthood in a significant proportion of patients. Recent prospective and adequately controlled cross-sectional studies reveal that constipation and fecal soiling are common late sequelae in adulthood. HD patients show uniformly lower scores of overall bowel function than healthy control subjects. Functional outcome and quality of life may be interrelated and deteriorate with increasing age. Despite these shortcomings, at adult age, most of the HD patients appear to be able to function as normal members of the society in terms of psychosocial, occupational, and recreational activities. Patients are at risk of developing related conditions, such as cancer, that require planning of specific screening programs. Many of the long-term problems that these patients experience are specific to HD. The follow-up of HD patients should be performed by medical personnel familiar with the disease, preferably in a specialized referral center, and the follow-up should continue beyond childhood.
尽管在先天性巨结肠症（HD）的病理解剖学和生理学认识方面取得了重大进展，但手术治疗的效果仍远非完美。HD患儿常见的功能缺陷和心理社会问题在相当一部分患者中会持续到成年期。最近的前瞻性和充分对照的横断面研究表明，便秘和大便失禁是成年期常见的晚期后遗症。HD患者的整体肠道功能评分普遍低于健康对照者。功能结局和生活质量可能相互关联，并随着年龄增长而恶化。尽管存在这些缺点，但在成年时，大多数HD患者在心理社会、职业和娱乐活动方面似乎能够像正常社会成员一样发挥作用。患者有患相关疾病（如癌症）的风险，这需要制定特定的筛查计划。这些患者经历的许多长期问题是HD所特有的。HD患者的随访应由熟悉该疾病的医务人员进行，最好在专门的转诊中心进行，并且随访应持续到儿童期之后。
