Desai Laxmikant, Kurien Reuben Thomas, Simon Ebby George, Dutta Amit Kumar, Joseph Anjilivelil Joseph, Chowdhury Sudipta Dhar
Department of Gastrointestinal Sciences, Christian Medical College, Vellore, 632 004, India.
Indian J Gastroenterol. 2014 Nov;33(6):560-3. doi: 10.1007/s12664-014-0514-7. Epub 2014 Oct 30.
Hypogammaglobulinemia, a form of primary immunodeficiency, is an uncommon condition. Gastrointestinal (GI) symptoms may be the only presentation. A series of 22 patients who presented with GI symptoms and were diagnosed with hypogammaglobulinemia is presented. Chronic diarrhea was the presentation in majority (90.9 %) of patients. Malabsorption was identified in 87.5 % of patients followed by weight loss (59.0 %), abdominal pain (27.2 %), and oral ulcers (4.5 %). The median duration of symptoms prior to diagnosis was 4 years, range being 6 months to 23 years. Evaluation revealed opportunistic infections including Giardia lamblia in 31.8 % and Cryptosporidium parvum, Isospora belli, Cytomegalovirus and Aeromonas in 4.5 % each. Serum globulins were low in all patients. Duodenal biopsy showed paucity of plasma cells in 45 %, villous atrophy in 35 % and nodular lymphoid hyperplasia in 30 % patients. Though uncommon, hypogammaglobulinemia is associated with GI disease. The possibility of a primary immunodeficiency should be considered in patients presenting with GI symptoms and low serum globulin.
低丙种球蛋白血症是原发性免疫缺陷的一种形式，是一种罕见病症。胃肠道（GI）症状可能是其唯一表现。本文介绍了一系列22例出现GI症状并被诊断为低丙种球蛋白血症的患者。大多数患者（90.9%）表现为慢性腹泻。87.5%的患者存在吸收不良，其次是体重减轻（59.0%）、腹痛（27.2%）和口腔溃疡（4.5%）。诊断前症状的中位持续时间为4年，范围为6个月至23年。评估发现机会性感染，包括31.8%的患者感染蓝氏贾第鞭毛虫，4.5%的患者分别感染微小隐孢子虫、贝氏等孢球虫、巨细胞病毒和气单胞菌。所有患者血清球蛋白均较低。十二指肠活检显示，45%的患者浆细胞减少，35%的患者绒毛萎缩，30%的患者出现结节性淋巴样增生。虽然罕见，但低丙种球蛋白血症与胃肠道疾病有关。对于出现GI症状且血清球蛋白低的患者，应考虑原发性免疫缺陷的可能性。
