Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings

✍ Scribed by Shinya Imada; Akihiko Kikuchi; Tsuguhiro Horikoshi; Kaori Ishikawa; Shunsuke Tamaru; Atsushi Komatsu; Kimiyo Takagi; Yoshifumi Ogiso

• Publisher: John Wiley and Sons
• Year: 2012
• Tongue: English
• Weight: 861 KB
• Volume: 40
• Category: Article
• ISSN: 0091-2751
• DOI: 10.1002/jcu.21895

✦ Synopsis

Abstract

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. © 2012 Wiley Periodicals, Inc. J Clin Ultrasound, 2012;