Steroid-responsive Autoimmune Sclerosing Cholangitis with Liver Granulocytic Epithelial Lesions
Steroid-responsive Autoimmune Sclerosing Cholangitis with Liver Granulocytic Epithelial Lesions
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DOI：
10.1097/mpg.0b013e3182487173
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发表时间：
2013-01-01
影响因子：
2.9
通讯作者：
Mieli-Vergani, Giorgina
中科院分区：
文献类型：
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作者：
Grammatikopoulos, Tassos;Zen, Yoh;Mieli-Vergani, Giorgina
AI合并CD的病例报道数量有限（2-5）。AI的发展可能先于或紧随CD的诊断，提示一种时间关系(5)。最近在家族性AI病例中，g-分泌酶亚基突变导致活性降低(6)；然而，g-分泌酶在乳糜泻中的作用尚未得到研究。这些疾病之间是否存在因果关系尚不清楚。AI和CD可能是由可能共分离的不同基因改变引起的，这是合理的。或者，可能存在一个共同的基本遗传背景变异，这反过来又增加了在更特定条件的遗传异常存在下的任何一种疾病的发展。本病例的不同家庭成员均有AI和结肠炎病史，提示后一种解释的可能性。英夫利昔单抗是治疗乳糜泻的成功药物；然而，据报道，从长期来看，高达35%至40%的患者疗效丧失。迄今为止，用英夫利昔单抗治疗的AI病例还不到100例（7,8）。其中一小部分还患有乳糜泻；英夫利昔单抗在这些病例中有成功应答的报道。英夫利昔单抗治疗在三分之一的AI患者中也有疗效丧失的报道(7)。重要的是，当患者接受英夫利昔单抗治疗乳糜泻并良好控制乳糜泻活性时，AI病变的发展。这一观察结果表明，英夫利昔单抗在CD患者AI发展中缺乏预防作用；然而，我们可以推测，在我们的病例中，使用英夫利昔单抗可能也有助于抗生素治疗对汗腺炎病变的快速改善。在接受肿瘤坏死因子-a阻滞剂治疗的患者中发生淋巴瘤是一种罕见的可能性。对于乳糜泻患者，无论是否接受英夫利昔单抗治疗，对于发生在淋巴结常住部位的肿块，特别是腋窝和腹股沟区域，应将AI纳入鉴别诊断。本病例的长期随访可能为了解CD与AI之间的关系提供有用的信息。
DISCUSSIONThere have been a limited number of reported cases of AI in association with CD (2–5). Development of AI may precede or follow the diagnosis of CD suggesting a temporal relation (5). Mutations in the enzyme g-secretase subunits leading to reduced activity have recently been described in familial cases of AI (6); however, the role of g-secretase has not been studied in CD so far. Whether there is a cause–effect relation between these disorders is not known. It is plausible that AI and CD may result from different genetic alterations that may cosegregate. Alternatively, there may be a common basic genetic background variation, which in turn increases the development of either disorder in the presence of a more condition-specific genetic abnormality. Presence of history of AI and colitis in different family members of the case reported here suggests the possibility of the latter explanation. Infliximab is a successful drug in the treatment of CD; however, loss of efficacy has been reported in up to 35% to 40% of the patients in the long term. Less than 100 cases of AI treated with infliximab have been reported to date (7, 8). A small proportion of them also had CD; successful response to infliximab has been reported in those cases. Loss of efficacy of infliximab therapy has also been reported in one third of the patients with AI (7). Of importance is the development of AI lesions while the presented patient was on infliximab therapy for CD with good control of CD activity. This observation points to the lack of preventative effect of infliximab in AI development in CD; however, it could be speculated that quick improvement in hidradenitis lesions with antibiotic treatment in our case may have been helped by the use of infliximab as well. Development of lymphomas in patients receiving tumor necrosis factor-a blockers is a rare possibility. In patients with CD, whether treated on infliximab or not, AI should be included in the differential diagnosis of lumps that occur at sites, where lymph nodes commonly reside, particularly axillary and inguinal regions. Long-term follow-up of this case may provide useful information in understanding the relation between CD and AI.