Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis.
Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis.
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DOI：
10.1136/bcr-2014-206849
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发表时间：
2015-01-07
期刊：
影响因子：
0.9
通讯作者：
Verjee, Mohamud A
中科院分区：
文献类型：
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作者：
Abou Ziki, Maen D;Verjee, Mohamud A
SLC26A3是一种氯离子/碳酸氢盐转运蛋白，主要在肠道中表达，在氯离子吸收中起关键作用。我们报告了一位23岁的女性，她有先天性氯化物腹泻（CCD）和肾移植的病史，她在出现急性腹泻发作后入院补液和治疗急性肾损伤。实验室检查证实代谢性碱中毒和严重的次氯血症，符合她潜在的CCD。这与大多数其他形式的腹泻形成对比，后者通常与代谢性酸中毒有关。基因检测显示SLC26A3纯合无义突变（Gly-187-Stop）。这种功能缺失的突变导致碳酸氢盐滞留在血液中，氯化物流失到肠腔中。以每日氯化钠、氯化钾口服糖浆治疗，辅以奥美拉唑治疗。她自身肾脏的丧失很可能是由于晶体性肾病继发于慢性体积收缩和氯离子耗竭。本病例总结了CCD的病理生理和治疗。
SLC26A3, a chloride/bicarbonate transporter mainly expressed in the intestines, plays a pivotal role in chloride absorption. We present a 23-year-old woman with a history of congenital chloride diarrhoea (CCD) and renal transplant who was admitted for rehydration and treatment of acute kidney injury after she presented with an acute diarrhoeal episode. Laboratory investigations confirmed metabolic alkalosis and severe hypochloraemia, consistent with her underlying CCD. This contrasts with most other forms of diarrhoea, which are normally associated with metabolic acidosis. Genetic testing was offered and revealed a homozygous non-sense mutation in SLC26A3 (Gly-187-Stop). This loss-of-function mutation results in bicarbonate retention in the blood and chloride loss into the intestinal lumen. Symptomatic management with daily NaCl and KCl oral syrups was supplemented with omeprazole therapy. The loss of her own kidneys is most likely due to crystal-induced nephropathy secondary to chronic volume contraction and chloride depletion. This case summarises the pathophysiology and management of CCD.