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首页> 外文期刊>Journal of Clinical Ultrasound: JCU >Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings
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Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings

机译：先天性氯化物腹泻的产前诊断和处理：2例兄弟姐妹病例报告

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摘要

Congenital chloride diarrhea (CLD) is a rare hereditary disease. The basic defect of CLD is massive loss of Cl - and fluid into the ileum and colon. Prenatal diagnosis of this disease is quite important because the infant requires electrolyte supplementation from the early postnatal period. Two cases in which prenatal diagnoses of CLD were made in siblings are reported. Extreme electrolyte imbalance may cause fetal cardiac dysfunction or a poor general condition leading to a non-reassuring fetal status in cases with CLD. Therefore, frequent fetal monitoring using cardiotocograms and ultrasound may be beneficial to some fetuses with CLD to detect fetal deterioration. In addition, repeated amnioreduction may be required to treat severe polyhydramnios and threatened preterm delivery.
机译：先天性氯化物腹泻（CLD）是一种罕见的遗传性疾病。 CLD的基本缺陷是Cl-大量流失到回肠和结肠。这种疾病的产前诊断非常重要，因为婴儿从产后早期就需要补充电解质。据报道有两例在兄弟姐妹中进行了CLD的产前诊断。极端的电解质失衡可能会导致胎儿心脏功能障碍或身体状况不佳，导致CLD患者的胎儿状况无法令人安心。因此，使用心电图和超声波进行频繁的胎儿监护可能有益于某些患有CLD的胎儿以检测胎儿的恶化。此外，可能需要反复进行羊膜穿刺术以治疗严重的羊水过多和早产。

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