Imada Shinya, Kikuchi Akihiko, Horikoshi Tsuguhiro, Ishikawa Kaori, Tamaru Shunsuke, Komatsu Atsushi, Takagi Kimiyo, Ogiso Yoshifumi
Department of Obstetrics, Center for Perinatal Medicine, Nagano Children's Hospital, 3100 Toyoshina, Azumino, Nagano, Japan.
J Clin Ultrasound. 2012 May;40(4):239-42. doi: 10.1002/jcu.21895. Epub 2012 Feb 24.
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.
先天性氯腹泻（CLD）是一种罕见的遗传性疾病。CLD的基本缺陷是大量的氯离子（Cl⁻）和液体流失到回肠和结肠。这种疾病的产前诊断非常重要，因为婴儿从出生后早期就需要补充电解质。本文报告了两例在同胞中进行CLD产前诊断的病例。严重的电解质失衡可能导致胎儿心脏功能障碍或一般状况不佳，从而导致CLD病例中胎儿状况令人担忧。因此，使用胎心监护和超声进行频繁的胎儿监测可能有助于一些患有CLD的胎儿检测胎儿状况恶化。此外，可能需要反复进行羊水减量术来治疗严重羊水过多和先兆早产。
