Department of Pediatric Surgery, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada, H3C 1C5.
J Pediatr Surg. 2013 May;48(5):1037-43. doi: 10.1016/j.jpedsurg.2013.02.026.
Calretinin, a calcium-binding protein, has been reported to be an important new marker in Hirschsprung's disease (HD). The aim is to study the diagnostic value of Calretinin in total colonic aganglionosis (TA), prematurity, and superficial biopsy when nerve hyperplasia may not be accessed by ACE activity.
Records of patients diagnosed with HD at our institution from 1985 to 2010 were studied and patients with TA identified. We examined tissue samples from those TA, partial colectomies for HD, biopsies for suspicion of HD, and rectal tissue from aborted fetuses. Immunohistochemical analysis of Calretinin was compared with ACE gold standard method in all cases.
In the majority of the cases, the diagnosis was ascertained by ACE activity and Calretinin staining. However, in 9 cases, the diagnosis was possible with Calretinin staining but not with ACE: in 4 TA because of the absence of nerve hyperplasia, and in 5 cases because the biopsies were too superficial to examine the nerve hyperplasia. In addition, Calretinin was expressed in the gut as early as 22 gestational weeks.
The use of Calretinin staining may be superior to ACE activity, particularly in the context of TA, superficial biopsies, and prematurity, allowing earlier diagnosis.
钙结合蛋白 calretinin 已被报道为先天性巨结肠症（HD）的一个重要新标志物。本研究旨在探讨 calretinin 在全结肠无神经节细胞症（TA）、早产和可能无法通过 ACE 活性检测到神经增生的浅表活检时的诊断价值。
研究了我院 1985 年至 2010 年期间诊断为 HD 的患者记录，并确定了 TA 患者。我们检查了这些 TA、HD 部分结肠切除术、疑似 HD 的活检以及流产胎儿的直肠组织的组织样本。在所有病例中，均将 Calretinin 的免疫组织化学分析与 ACE 金标准方法进行了比较。
在大多数情况下，通过 ACE 活性和 Calretinin 染色确定了诊断。然而，在 9 例病例中，Calretinin 染色而非 ACE 可确定诊断：4 例 TA 是因为缺乏神经增生，5 例是因为活检太浅而无法检查神经增生。此外，Calretinin 在 22 孕周的肠道中就已经有表达。
Calretinin 染色的使用可能优于 ACE 活性，特别是在 TA、浅表活检和早产的情况下，可更早地做出诊断。
