Villin Immunohistochemistry Is a Reliable Method for Diagnosing Microvillus Inclusion Disease
Villin Immunohistochemistry Is a Reliable Method for Diagnosing Microvillus Inclusion Disease
复制标题
DOI：
10.1097/pas.0000000000000355
复制
发表时间：
2015-02-01
影响因子：
5.6
通讯作者：
Kozakewich, Harry P. W.
中科院分区：
文献类型：
--
作者：
Shillingford, Nick M.;Calicchio, Monica L.;Kozakewich, Harry P. W.
微绒毛包涵体病(MVID)是一种罕见的先天性疾病，在婴儿早期表现为顽固性水样腹泻。该实体的形态特征是由于刷状边缘蛋白的错位组装，在吸收细胞(肠细胞)内有缺陷的刷状边缘和顶端细胞质内含物。诊断基于组织病理学、特殊染色、免疫组织化学(IHC)，并最终基于电子显微镜。目前，PAS和CD10IHC是常用的辅助剂，但除了刷状边缘结构外，它们还染色各种顶端细胞质和细胞器，从而干扰对微绒毛夹杂物的识别。绒毛蛋白是一种能与微绒毛的肌动蛋白核心束特异结合的蛋白质。6例MVID患者、5例乳糜泻患者和17例正常儿童的胃肠道活检标本经福尔马林固定石蜡包埋的胃肠活检标本，我们用VILIN免疫组织化学方法进行检测，并与CD10-IHC和PAS染色结果进行比较。所有MVID病例在诊断时都进行了确证电子显微镜检查。对照组绒毛蛋白免疫反应仅局限于刷状缘处。在MVID中，Villin IHC表现为表面刷状边缘的减弱或消失，并清晰地显示细胞质内的微绒毛包裹体。在MVID中，CD10IHC和PAS染色也显示表面刷状边缘的减弱或消失，但多种细胞质结构的染色使微绒毛内含物变得模糊。综上所述，Villin IHC是诊断MVID的一种可靠和优越的辅助手段。对更多病例的研究将确定维林IHC是否会消除对电子显微镜确认的需要。
Microvillus inclusion disease (MVID) is a rare congenital disorder that manifests early in infancy as intractable watery diarrhea. The entity is characterized morphologically by a deficient brush border and apical cytoplasmic inclusions within absorptive cells (enterocytes) due to misplaced assembly of brush border proteins. The diagnosis is based upon histopathology, special stains, immunohistochemistry (IHC), and ultimately upon electron microscopy. Currently, the periodic acid-Schiff stain (PAS) and CD10 IHC are commonly used as adjuncts, but in addition to brush border structures, they stain a variety of apical cytoplasmic inclusions and organelles, thereby interfering with recognition of microvillus inclusions. Villin is a protein that specifically binds to the actin core bundle of microvilli. We utilized villin IHC in formalin-fixed paraffin-embedded gastrointestinal biopsies from 6 patients with MVID, 5 with celiac disease, and 17 children with normal intestinal biopsies and compared the results with those obtained with CD10 IHC and PAS staining. All MVID cases had confirmatory electron microscopy at the time of diagnosis. Villin immunoreactivity was restricted to the brush border in the control groups. In MVID, villin IHC showed attenuation or loss of the surface brush border and also highlighted the cytoplasmic microvillus inclusions with clarity. In MVID, CD10 IHC and the PAS stain also showed attenuation or loss of the surface brush border, but staining of a variety of cytoplasmic structures largely obscured the microvillus inclusions. In sum, villin IHC is a reliable and superior adjunct in the diagnosis of MVID. Study of additional cases will determine whether villin IHC would obviate the need for electron microscopic confirmation.