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2017/12/10.
概述

乳糜泻是一种以针对饮食中的植物蛋白成分(如小麦、黑麦、大麦中的麦谷蛋白和麦麸蛋白)而产生异常免疫应答反应为特征的自身免疫性疾病。这些免疫应答导致小肠炎症及肠绒毛损伤。小肠内壁的绒毛褶皱突起能增加肠道内壁的表面积,促进营养物质、维生素、矿物质、液体和电解质等的吸收,一旦肠绒毛受损,肠道吸收能力下降,最终产生营养不良和吸收不良的相应症状。

乳糜泻患者常伴有炎症和机体的损伤,通常与自身抗体的产生有关。当患者食用谷物蛋白后,机体识别该蛋白,并产生相应抗体,同时这种抗体还识别并结合小肠绒毛的同源成分。若患者继续服用该谷物蛋白,机体将持续产生上述自身抗体,对机体造成伤害。

该病全球均可见,但高发于欧洲国家。女性多见,任何年龄均可发病。该病发病机制不明,与环境、情绪、体质相关,有遗传倾向。根据NDDIC(National Digestive Diseases Information Clearinghouse)提供的数据显示,乳糜泻患者5%-15%的亲密家庭成员会出现相同症状。

乳糜泻的症状包括:

  • 腹痛腹胀
  • 贫血
  • 出血倾向
  • 血便
  • 骨与关节痛
  • 牙釉质变化
  • 腹泻
  • 疲劳
  • 大便油性恶臭
  • 口腔溃疡
  • 虚弱
  • 消瘦

这些症状也可见于其它疾病,如食源性变态反应。

乳糜泻儿童会表现为生长发育缓慢,青春期发病具有同样表现。成年患者还可以导致不育。很多患者还会出现疱疹样皮炎,皮肤出现疥癣样水泡。罹患骨质疏松症和肠内淋巴瘤的机会也大大增加。

有研究表明,美国每133人中有1人发病,但是由于症状表现千差万别,仅有3%可明确诊断。根据口炎性腹泻联合会(Celiac Sprue Association)资料显示,仅有10%乳糜泻患者表现出典型的吸收不良症状,40%的患者症状不明显,还有33%的患者无任何相关症状。该病的症状随患者年龄和发育阶段变化而变化。相同症状可能出现在很多其它疾病,因此易出现漏诊和误诊,有时甚至长达数年不能正确诊断。

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  • 试验

    很多实验室检查可用于有症状的乳糜泻患者的诊断,但目前尚无推荐的筛选试验。乳糜泻患者无症状的亲属以及医生怀疑乳糜泻风险增加时,都需要进行相关检测。

    以往,小肠活组织检查是唯一的诊断方法,这种显微检查方法是确诊该病的金标准。但无创的血液检查的出现,大大降低了需要活检的例数。

    最佳的首选试验是抗组织转谷氨酰胺酶抗体(anti-tissue transglutaminase antibody, anti-tTG)及IgA检测。若测定结果阳性,患者有可能患有乳糜泻。若结果阴性,但医生仍高度怀疑,可进一步申请本文所叙述的其它检测项目。对于每一个病例可能都需要进行活检,以确定是否存在小肠绒毛的损伤。

    疾病严重程度及患者营养不良,吸收不良和器官受累程度可通过如下试验检测,包括:

    患者经一段时间的无麸质饮食后,可进行多项血液检查。如果抗体水平降低,证明饮食控制有效。如果患者症状未见改善,仍需进行其它血液检查,帮助查找饮食中隐匿的谷蛋白或其它因素。

    最近,一种遗传学检查可用于查找与乳糜泻强烈相关的基因标记,HLA -DQ2和DQ8。但是阳性结果仍不能确诊该病,因为30%的正常人群中也可能携带该标记。因此阳性结果仍需进一步验证,但阴性结果即可排除患有乳糜泻的可能。遗传学检查主要用于该病患者的高危家庭成员及其它试验未能明确诊断的人群检查。

  • 治疗

    该病患者必须终生忌麸质饮食,需要咨询营养师,了解食物成分。停食各种麦类食品(大麦、小麦、黑麦等),抗体水平将逐渐下降,小肠病症将痊愈。

    然而大多乳糜泻造成的小肠损害是不可逆的,一些营养不良、吸收不良的症状持续存在,如身材矮小和骨质疏松。早发现早治疗是关键,尤其在幼儿时期。当儿童从母乳到固体食物过渡的时期,谷物蛋白是最常食用的食物,自身抗体随即产生。因此当婴儿有成长缓慢的症状时,就应该考虑有无乳糜泻发生的可能。

    大多数情况,患者严格遵照忌麦胶饮食,可以持续保持健康,无症状,相对正常的生活,但是一旦接触含有谷蛋白的食物,即刻再次表现患病症状和身体损害。即便患者暂无小肠损伤的症状,一段时间后可能出现营养缺乏和骨质疏松等并发症。

    极少的乳糜泻患者即使忌麸质饮食,也会出现小肠的不可逆损伤。这些患者需要进行药物治疗和营养支持治疗,如输注维生素等。

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