title: Fetal urine biochemistry in antenatal Bartter syndrome: a case report.
abstract: Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.
authors.affiliation: Biochimie-Hormonologie Hôpital Robert Debré APHP Paris France.
authors.forename: Myriam L
authors.initials: ML
authors.lastname: Rachid
authors.affiliation: Biochimie-Hormonologie Hôpital Robert Debré APHP Paris France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Dreux
authors.affiliation: Biochimie-Hormonologie Hôpital Robert Debré APHP Paris France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Czerkiewicz
authors.affiliation: Néphrologie Pédiatrique Hôpital Robert Debré APHP Paris France.
authors.forename: Georges
authors.initials: G
authors.lastname: Deschênes
authors.affiliation: Département de Génétique Hôpital Européen Georges Pompidou APHP Paris France.
authors.forename: Rosa
authors.initials: R
authors.lastname: Vargas-Poussou
authors.affiliation: Gynécologie-Obstétrique Hôpital Bichat - Claude Bernard APHP Paris France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Mahieu-Caputo
authors.affiliation: Gynécologie-Obstétrique Hôpital Robert Debré APHP Paris France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Oury
authors.affiliation: Biochimie-Hormonologie Hôpital Robert Debré APHP Paris France; Université Versailles Saint Quentin en Yvelines Versailles France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Muller
keywords: Prenatal diagnosis; amniotic fluid; genetic disease; polyhydramnios; tubulopathy