Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal manifestations, mainly polyhydramnios, leading to premature delivery. Affected neonates present with watery stools, sometimes mistaken as urine, leading to a misdiagnosis of Bartter syndrome. The aim of this study was to study the value of a prenatal biochemical pattern in the case of suspected CDD.

中文翻译：

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两种形式的先天性腹泻病（先天性氯化物腹泻和先天性钠性腹泻）的产前生化诊断：系列12例

先天性腹泻病（CDDs）是一组罕见的疾病，其中一些表现为肠道电解质运输的遗传性疾病：先天性氯化物腹泻（CCD）和先天性钠性腹泻（CSD）具有产前表现，主要是羊水过多，导致早产。受影响的新生儿出现水样便，有时被误认为是尿液，导致误诊为 Bartter 综合征。本研究的目的是研究产前生化模式在疑似 CDD 的情况下的价值。