Ali Omair M, Shealy Charlotte, Saklayen Mohammad
V.A. Medical Center and Wright State University Boonshoft School of Medicine , Dayton, OH , USA.
Clin Kidney J. 2012 Aug;5(4):356-8. doi: 10.1093/ckj/sfs082.
A 58-year old male with a history of small bowel resection and ileostomy presented with severe dehydration and high ostomy output. Laboratory investigation indicated hypochloremia, hypokalemia, hyponatremia, metabolic alkalosis, chloride-rich diarrhea, acute renal failure, and low urinary chloride excretion. Due to striking similarities to congenital chloridorrhea (CCD) reported in neonates, we empirically diagnosed acquired chloridorrhea (ACD, chloride diarrhea). This is a rare disorder resulting in profuse chloride-rich diarrhea and classic metabolic derangements affecting adults with chronic intestinal inflammation, often in association with bowel surgery. In this report, we review the relevant literature and discuss the genetic defects likely contributing to both the congenital and acquired forms of chloridorrhea.
一名58岁男性,有小肠切除和回肠造口术病史,出现严重脱水和高造口排出量。实验室检查显示低氯血症、低钾血症、低钠血症、代谢性碱中毒、富含氯化物的腹泻、急性肾衰竭和低尿氯排泄。由于与新生儿中报道的先天性氯化物腹泻(CCD)有惊人的相似之处,我们经验性地诊断为获得性氯化物腹泻(ACD,氯化物腹泻)。这是一种罕见的疾病,导致大量富含氯化物的腹泻和经典的代谢紊乱,影响患有慢性肠道炎症的成年人,通常与肠道手术有关。在本报告中,我们回顾了相关文献,并讨论了可能导致先天性和获得性氯化物腹泻形式的遗传缺陷。