Mastocytosis is a complex disease characterized by aberrant expansion and accumulation of clonal mast cells at tissue sites including the skin, bone marrow and gastrointestinal (GI) tract. Criteria for diagnosis of systemic mastocytosis includes characteristic bone marrow findings, a serum tryptase of >20 ng/mL, an activating point mutation at codon 816 of KIT, which is a tyrosine kinase and receptor for stem cell factor and abnormal mast cell immunophenotyping (expression of CD25/CD2). 1 In addition to symptoms such as flushing, anaphylaxis and musculoskeletal pain, patient with mastocytosis exhibit gastrointestinal manifestations that overlap with irritable bowel disease (IBS) and include diarrhea, abdominal pain, gastroesophageal reflux disease (GERD), as well as nausea and vomiting. While mechanisitic pathways leading to symptomatology in irritable bowel disease are unclear, increased intestinal permeability likely as the result of the effects of mast cells have been proposed to contribute to its pathophysiology.2,3 As an outgrowth of these functional and mechanistic observations in patient with IBS we sought to determine in patients with mastocytosis if there are alterations in gut permeability. We used an increase in serum levels of microbial translocation markers (MTMs) as surrogate indicators of GI integrity. Clinical manifestation and laboratory findings within the patient population were also segregated for MTMs subset analyses.

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肥大细胞增多症微生物易位标志物的研究

肥大细胞增多症是一种复杂的疾病，其特征是克隆肥大细胞在皮肤、骨髓和胃肠道等组织部位异常扩张和积累。系统性肥大细胞增多症的诊​​断标准包括特征性骨髓表现、血清类胰蛋白酶 > 20 ng/mL、KIT 密码子 816 处的激活点突变，KIT 是一种酪氨酸激酶和干细胞因子受体以及肥大细胞免疫表型异常（表达CD25/CD2)。1 除了潮红、过敏反应和肌肉骨骼疼痛等症状外，肥大细胞增多症患者还会出现与肠易激疾病 (IBS) 重叠的胃肠道表现，包括腹泻、腹痛、胃食管反流病 (GERD) 以及恶心和呕吐。虽然导致肠易激疾病症状学的机制途径尚不清楚，但可能由于肥大细胞的作用而增加的肠道通透性可能有助于其病理生理学。2,3 作为这些功能和机制观察结果在肠易激综合征患者中的结果IBS 我们试图确定肥大细胞增多症患者的肠道通透性是否发生变化。我们使用增加的微生物易位标记 (MTM) 血清水平作为 GI 完整性的替代指标。患者群体中的临床表现和实验室发现也被隔离用于 MTM 子集分析。3 作为 IBS 患者这些功能和机制观察的结果，我们试图确定肥大细胞增多症患者的肠道通透性是否发生变化。我们使用增加的微生物易位标记 (MTM) 血清水平作为 GI 完整性的替代指标。患者群体中的临床表现和实验室发现也被隔离用于 MTM 子集分析。3 作为 IBS 患者这些功能和机制观察的结果，我们试图确定肥大细胞增多症患者的肠道通透性是否发生变化。我们使用增加的微生物易位标记 (MTM) 血清水平作为 GI 完整性的替代指标。患者群体中的临床表现和实验室发现也被隔离用于 MTM 子集分析。