title: Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings.
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.
authors.affiliation: Department of Obstetrics, Center for Perinatal Medicine, Nagano Children's Hospital, 3100 Toyoshina, Azumino, Nagano, Japan.
authors.forename: Shinya
authors.initials: S
authors.lastname: Imada
authors.forename: Akihiko
authors.initials: A
authors.lastname: Kikuchi
authors.forename: Tsuguhiro
authors.initials: T
authors.lastname: Horikoshi
authors.forename: Kaori
authors.initials: K
authors.lastname: Ishikawa
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Tamaru
authors.forename: Atsushi
authors.initials: A
authors.lastname: Komatsu
authors.forename: Kimiyo
authors.initials: K
authors.lastname: Takagi
authors.forename: Yoshifumi
authors.initials: Y
authors.lastname: Ogiso
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000737:chemistry*; D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007422:Intestines / Q000000981:diagnostic imaging; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal