Diarrhea and Hypokalemic Rhabdomyolysis Due to Apoptotic Colitis as the Initial Manifestation of Common-Variable Immunodeficiency in an Adolescent
Diarrhea and Hypokalemic Rhabdomyolysis Due to Apoptotic Colitis as the Initial Manifestation of Common-Variable Immunodeficiency in an Adolescent作者机构：Department of Pathology University of Mississippi Medical Center Jackson USA Division of Pediatric Allergy-Immunology University of Mississippi Medical Center Jackson USA Division of Pediatric Gastroenterology University of Mississippi Medical Center Jackson USA School of Medicine University of Mississippi Medical Center Jackson USA
出 版 物：《Open Journal of Pediatrics》 (儿科学期刊（英文）)
年 卷 期：2014年第4卷第2期
页 面：129-134页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
主 题：Apoptotic Colitis Common-Variable Immune Deficiency Hypokalemia Rhabdomyolysis
摘 要：We present the case of an adolescent who presented with rhabdomyolysis due to severe hypokalemia arising from chronic diarrhea. Initial evaluation for celiac disease, known to present in this manner, was negative. Further evaluation with colonoscopy showed a normal appearing colon but biopsies showed a significant number of apoptotic cells in the mucosal crypts supporting a diagnosis of apoptotic colitis. Investigation into the cause of apoptotic colitis resulted in a diagnosis of common variable immune deficiency due to a defect in the inducible T-cell costimulator (ICOS) gene. Physicians should be aware of this uncommon condition and the importance of mucosal biopsy despite the presence of normal appearing mucosa.
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