Özbay Hoşnut Ferda, Karadağ Öncel Eda, Öncel Mehmet Yekta, Özcay Figen
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Başkent University, School of Medicine, Ankara.
Turk J Gastroenterol. 2010 Dec;21(4):443-7.
Congenital chloride diarrhea is a rare autosomal recessively inherited disorder characterized by impairment of Cl-/HCO3- exchange in an otherwise normal distal ileum and colon. Infrequency of congenital chloride diarrhea makes diagnostics difficult. The typical presentation is watery Cl- rich diarrhea, hypochloremia, hypokalemia, metabolic alkalosis and failure to thrive. This is a report of a Turkish female infant who was falsely diagnosed with Bartter syndrome when she was two months old. Ibuprofen was commenced at that time. However, severe watery diarrhea, dehydration, failure to thrive, abdominal distention, and electrolyte abnormalities persisted. She was diagnosed with congenital chloride diarrhea based on high fecal Cl- level and SLC26A3 gene c.2025_2026insATC mutation at the age of eight months. Oral NaCl and KCl supplementation was started. Our patient is now 26 months old. Her growth and development are normal. Early diagnosis and treatment are essential for normal growth and development and prevention of other severe complications of congenital chloride diarrhea.
先天性氯腹泻是一种罕见的常染色体隐性遗传疾病，其特征是在其他方面正常的回肠末端和结肠中Cl⁻/HCO₃⁻交换受损。先天性氯腹泻发病率低，使得诊断困难。典型表现为富含Cl⁻的水样腹泻、低氯血症、低钾血症、代谢性碱中毒和生长发育迟缓。本文报告了一名土耳其女婴，她在两个月大时被误诊为巴特综合征，并于当时开始使用布洛芬治疗。然而，严重的水样腹泻、脱水、生长发育迟缓、腹胀和电解质异常持续存在。她在八个月大时，根据高粪便Cl⁻水平和SLC26A3基因c.2025_2026insATC突变被诊断为先天性氯腹泻。开始口服补充NaCl和KCl。我们的患者现在26个月大，其生长发育正常。早期诊断和治疗对于先天性氯腹泻的正常生长发育以及预防其他严重并发症至关重要。
