Gambarara M, Bracci F, Diamanti A, Ambrosini M I, Pietrobattista A, Knafelz D, Ferretti F, Castro M
Gastroenterology and Nutrition Unit, Bambino Gesu Children Hospital, Piazza S. Onofrio 4, Rome RM 00174, Italy.
Transplant Proc. 2005 Jun;37(5):2270-1. doi: 10.1016/j.transproceed.2005.03.063.
Severe and protracted or persistent diarrhea (SPD) is the most severe form of diarrhea in infancy and has also been defined as intractable diarrhea when it leads to dependence on total parenteral nutrition (TPN). One of the rare causes of SPD is represented by autoimmune enteropathy that is characterized by life-threatening diarrhea mainly occurring within the first years of life, persistent villous atrophy in consecutive biopsies, resistance to bowel rest, and evidence of antigut autoantibodies. We evaluated 10 patients (seven boys, mean age at diagnosis 18 months; range: 0 to 160 months) fulfilling criteria of autoimmune enteropathy to assess dependence on TPN. TPN was first required in all patients to avoid dehydration and electrolytic imbalance. All patients were dependent on immunosuppressive therapy (steroid, azothioprine, cyclosporine, tacrolimus). Three patients died of sepsis: two during TPN while in the hospital, and one at home after he was weaned off TPN. Five patients are weaned off TPN after a mean period of 18 months; they are actually on oral alimentation with a cow milk-free diet after a period of enteral nutrition with elemental formula. One underwent total colectomy and bone marrow transplantation and one developed an IPEX syndrome. One patient is still dependent on TPN for 24 months. She is on home parenteral nutrition. Patients with diagnosis of IPEX syndrome require parenteral support with three or four infusion per week. TPN represents a fixed step in the management of autoimmune enteropathy, but it may be considered as an interim treatment while waiting for intestinal adaptation, at least in some selectioned case of autoimmune enteropathy. Bone marrow transplantation should be considered and reserved for those patients with severe complications due to home parenteral nutrition, or in those that are really dependent on parenteral nutrition.
严重、迁延性或持续性腹泻（SPD）是婴儿期最严重的腹泻形式，当导致依赖全胃肠外营养（TPN）时也被定义为难治性腹泻。SPD的罕见病因之一是自身免疫性肠病，其特征是危及生命的腹泻主要发生在生命的最初几年，连续活检显示持续性绒毛萎缩，对肠道休息无反应，以及存在抗肠道自身抗体。我们评估了10例符合自身免疫性肠病标准的患者（7名男孩，诊断时平均年龄18个月；范围：0至160个月），以评估对TPN的依赖情况。所有患者最初都需要TPN以避免脱水和电解质失衡。所有患者都依赖免疫抑制治疗（类固醇、硫唑嘌呤、环孢素、他克莫司）。3例患者死于败血症：2例在住院接受TPN期间，1例在停用TPN后在家中死亡。5例患者在平均18个月后停用TPN；在接受一段时间的要素配方肠内营养后，他们目前采用无牛奶饮食进行口服营养。1例患者接受了全结肠切除术和骨髓移植，1例患者发生了IPEX综合征。1例患者仍依赖TPN 24个月。她接受家庭肠外营养。诊断为IPEX综合征的患者需要每周进行三到四次肠外支持。TPN是自身免疫性肠病管理中的一个固定步骤，但至少在某些选定的自身免疫性肠病病例中，它可被视为等待肠道适应期间的临时治疗。对于因家庭肠外营养出现严重并发症的患者或真正依赖肠外营养的患者，应考虑并保留骨髓移植。
