title: Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.
abstract: OBJECTIVE
  Bartter syndrome is a severe inherited tubulopathy characterized by postnatal salt wasting, severe polyuria, dehydration, failure to thrive and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following the onset of severe polyhydramnios in the second trimester. We studied amniotic fluid aldosterone concentration in Bartter syndrome and in controls.
  
  
  METHODS
  Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of prenatally suspected and postnatally confirmed Bartter syndrome (22 with identified mutations): and 72 gestational age matched controls presenting with polyhydramnios and 72 without polyhydramnios. Amniotic fluid aldosterone was compared between the three groups.
  
  
  RESULTS
  The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) was not different from that in the controls with polyhydramnios (90 pg/mL, P = 0.33) or without polyhydramnios (87 pg/mL, P = 0.41).
  
  
  CONCLUSIONS
  Amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome. © 2015 John Wiley & Sons, Ltd.
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: Gauthier
authors.initials: G
authors.lastname: Pean de Ponfilly
authors.affiliation: Département de Génétique, Hôpital Européen Georges Pompidou, APHP, Paris, France.
authors.forename: Rosa
authors.initials: R
authors.lastname: Vargas-Poussou
authors.affiliation: Biochimie-Hormonologie, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Czerkiewicz
authors.affiliation: Biochimie-Hormonologie, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Chevenne
authors.affiliation: Gynécologie-Obstétrique, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Oury
authors.affiliation: Néphrologie Pédiatrique, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Georges
authors.initials: G
authors.lastname: Deschênes
authors.affiliation: Biochimie-Hormonologie, Hôpital Robert Debré, APHP, Paris, France.|Université Versailles Saint Quentin en Yvelines, Paris, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Muller
mesh_terms: D000450:Aldosterone / Q000378:metabolism*; D000653:Amniotic Fluid / Q000378:metabolism*; D001477:Bartter Syndrome / Q000175:diagnosis* / Q000378:metabolism; D015415:Biomarkers / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies
chemical_list: D015415:Biomarkers; D000450:Aldosterone