Giardino Giuliana, Cirillo Emilia, Maio Filomena, Gallo Vera, Esposito Tiziana, Naddei Roberta, Grasso Fiorentino, Pignata Claudio
Department of Translational Medical Sciences, "Federico II" University , Naples , Italy.
Scand J Gastroenterol. 2014 Mar;49(3):274-9. doi: 10.3109/00365521.2013.855814. Epub 2013 Dec 18.
OBJECTIVE. Enteropathy is a very common feature in patients with primary immunodeficiencies. In patients with Del22 gastrointestinal (GI) alterations, including feeding disorders and congenital abnormalities have been often reported, mostly in the first year of life. MATERIAL AND METHODS. Aim of this monocentric study is to better define the GI involvement in a cohort of 26 patients affected with Del22 syndrome. Anamnestic information was retrospectively collected for each patient. Weight and height parameters at the time of the screening were recorded. Plasma levels of hemoglobin, iron, ferritin, albumin, total protein, calcium, phosphorus, transaminase levels, antigliadin (AGA) IgA and IgG, and antitissue transglutaminase (anti-TGase) titers were measured. RESULTS. A GI involvement was identified in the 58% of patients. The prominent problems were abdominal pain, vomiting, gastroesophageal reflux and chronic constipation. Weight deficiency, short stature and failure to thrive were reported in 54, 42, and 30% of the patients, respectively. The evidence of sideropenic anemia, in keeping with hypoproteinemia, impaired acid steatocrit or cellobiose/mannitol test suggested an abnormal intestinal permeability. In this cohort, a high prevalence of AGA IgA and IgG positivity was observed. Celiac disease (CD) was suspected in three patients, and in one of them confirmed by histology. In this patient, a long-lasting gluten-free diet failed to restore the intestinal architecture. CONCLUSIONS. In conclusion, GI involvement is a very common feature in Del22 patients. A better characterization of GI involvement would be very useful to improve the management of these patients.
目的。肠病是原发性免疫缺陷患者非常常见的特征。在伴有22号染色体缺失（Del22）的患者中，胃肠道（GI）改变，包括喂养障碍和先天性异常经常被报道，大多发生在生命的第一年。材料与方法。这项单中心研究的目的是更好地界定26例患有Del22综合征患者的胃肠道受累情况。回顾性收集每位患者的既往信息。记录筛查时的体重和身高参数。检测血浆中的血红蛋白、铁、铁蛋白、白蛋白、总蛋白、钙、磷、转氨酶水平、抗麦醇溶蛋白（AGA）IgA和IgG以及抗组织转谷氨酰胺酶（抗TGase）滴度。结果。58%的患者存在胃肠道受累情况。突出问题是腹痛、呕吐、胃食管反流和慢性便秘。分别有54%、42%和30%的患者报告有体重不足、身材矮小和发育不良。缺铁性贫血的证据，与低蛋白血症、酸性脂肪球压积受损或纤维二糖/甘露醇试验结果相符，提示肠道通透性异常。在该队列中，观察到AGA IgA和IgG阳性的高患病率。3例患者疑似患有乳糜泻（CD），其中1例经组织学确诊。在该患者中，长期无麸质饮食未能恢复肠道结构。结论。总之，胃肠道受累是Del22患者非常常见的特征。更好地描述胃肠道受累情况对于改善这些患者的管理非常有用。
