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一名土耳其男孩患先天性氯腹泻。

Congenital chloride diarrhea in a Turkish boy.

作者信息

Ozen H, Tanriöğer N

机构信息

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.

出版信息

Turk J Pediatr. 1996 Apr-Jun;38(2):235-8.

PMID:8701491
Abstract

Congenital chloride diarrhea (CCD), first described in 1945, is a rare, autosomal-recessively inherited disease. It is characterized by chronic, watery diarrhea with a high fecal chloride concentration, hyponatremia, hypokalemia, and hypochloremic metabolic alkalosis. In this report, a 7.5-year-old boy with CCD diagnosed by high fecal chloride concentration is presented. Until now CCD had not been reported from Turkey, although consanguineous marriages are common.

摘要

先天性氯腹泻(CCD)于1945年首次被描述,是一种罕见的常染色体隐性遗传病。其特征为慢性水样腹泻,粪便氯浓度高,低钠血症,低钾血症和低氯性代谢性碱中毒。在本报告中,介绍了一名通过高粪便氯浓度诊断为CCD的7.5岁男孩。尽管近亲结婚很常见,但迄今为止土耳其尚未报告过CCD病例。

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