Fetal urine biochemistry in antenatal Bartter syndrome: a case report. Issue 9 (8th August 2016)

• Record Type: Journal Article
• Authors: Rachid, Myriam L.; Dreux, Sophie; Czerkiewicz, Isabelle; Deschênes, Georges; Vargas‐Poussou, Rosa; Mahieu‐Caputo, Dominique; Oury, Jean‐François; Muller, Françoise
• Is Part Of: Clinical case reports. Volume 4:Issue 9(2016)
• Page Start: 876
• Page End: 878
• Publication Date: 2016-08-08
• Subjects: Prenatal diagnosis -- polyhydramnios -- amniotic fluid -- tubulopathy -- genetic disease; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.471
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.