Badawi M H, Zaki M, Ismail E A, Majid Molla A
Department of Paediatrics, Al-Adan Hospital, Hadeia Kuwait.
J Trop Pediatr. 1998 Oct;44(5):296-9. doi: 10.1093/tropej/44.5.296.
Congenital chloride diarrhoea (CCD) is a recessively inherited disorder of chloride transport in the distal ileum and colon. Congenital chloride diarrhoea is a common metabolic disorder in Kuwait with an incidence of 1/3200. Clinical findings in 14 children with CCD are reported over a period of 4 years. Maternal polyhydramnios, abdominal distension, watery diarrhoea, and a high faecal chloride level > 90 mmol/l were the cardinal features in the neonatal period. In spite of the classical features of this disease 75 per cent of our cases were diagnosed beyond the neonatal period and all demonstrated chronic diarrhoea and failure to thrive, with hypochloraemia, hypokalaemia, and metabolic alkalosis. The practice of ultrasonic examination for pregnant women with polyhydramnios and, particularly, for those with previously affected siblings led to early identification of new cases among our population recently. The antenatal ultrasonic examination showed dilated intestinal loops which suggest CCD. The diagnosis was confirmed by a high faecal chloride level.
先天性氯腹泻（CCD）是一种回肠末端和结肠中氯转运的隐性遗传性疾病。先天性氯腹泻在科威特是一种常见的代谢紊乱疾病，发病率为1/3200。报告了4年间14例先天性氯腹泻患儿的临床情况。产妇羊水过多、腹胀、水样腹泻以及粪便氯水平>90 mmol/l是新生儿期的主要特征。尽管有这种疾病的典型特征，但我们75%的病例在新生儿期之后才被诊断出来，所有病例均表现为慢性腹泻和发育不良，并伴有低氯血症、低钾血症和代谢性碱中毒。对羊水过多的孕妇，特别是对那些有患病同胞的孕妇进行超声检查的做法，最近使我们人群中的新病例得以早期发现。产前超声检查显示肠袢扩张，提示先天性氯腹泻。粪便氯水平高证实了诊断。
