儿童肠神经节发育异常症临床病理分析

Clinicopathologic features of intestinal dysganglionosis in children

目的探讨儿童先天性巨结肠(HD)、肠神经元性发育异常症(IND)和肠神经节减少症(IH)的临床和病理特征。方法回顾性分析238例肠神经节发育异常症患儿的临床资料和病理切片,比较其发病年龄、性别、病变累及肠段和预后等的差异。结果 238例患儿中,138例(58.0%)由直肠黏膜活检明确诊断。其中单纯HD122例,中位确诊年龄9个月,男女比为4.3︰1,均未累及全结肠;单纯IND 45例,中位确诊年龄14个月,男女比为1.05︰1,33.3%累及全结肠;单纯IH 2例,分别为12、18岁的男性,全部累及全结肠;HD合并IND 59例,中位年龄13个月,男女比5.56︰1,16.9%累及全结肠;HD合并IH 10例,中位年龄为11.5个月,全部为男性,80.0%累及全结肠。五组患儿诊断时年龄、男女性别比、累及全结肠比例以及患儿治愈率差异有统计学意义(P均<0.01)。结论直肠黏膜活检是诊断儿童肠神经节发育异常症的主要方法。HD发生率较高,病情较轻,预后好;单纯IH和HD合并IH发生率最低,病情最重,预后最差;单纯IND和HD合并IND居于前两组之间。

ObjectiveTo investigate the clinical and pathological features of Hirschprung disease （HD）, intestinal neuro-nal dysplasia （IND） and hypoganglionosis （IH） in children.MethodsThe clinical data and pathologic slices from 238 children with intestinal dysganglionosis were retrospectively analyzed. The age, sex, involved intestinal length of children and prognosis were compared.ResultsIn 238 patients, 138 （58.0%） were diagnosed by rectal mucosal biopsies. There were 122 HD patients whose median age at diagnosis was 9 months and the ratio of male to female was 4.3：1, without involvement of whole colon. There were 45 IND patients whose median age at diagnosis was 14 months and the ratio of male to female was 1.05：1, and the whole colon of 33.3% patients was involved. There were two male IH patients whose ages at diagnosis were 12 years and 18 years respectively, and their whole colon was involved. There were 59 patients with HD complicated by IND whose median age at diagnosis was 13 months and the ratio of male to female was 5.56：1 and the whole colon of 16.9% patients was involved. There were 10 male patients with HD complicated by IH whose median age at diagnosis was 11.5 months and the whole colon of 80.0% patients was involved. The ages at diagnosis, the sex ratio, the rates of whole colon involved, and the cure rates among 5 groups were signiifcantly different （allP〈0.01）.ConclusionsThe rectal mucosal biopsy was the main method in diagnosis of intestinal dysganglionsis in children. Patients with HD had higher incidence and mild condition and favorable prognosis. Patients with IH or patients with HD complicated by IH had lower incidence rates and severe condition and poor prognosis, followed by patients with IND or patients with HD complicated by IND.