title: Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.
abstract: Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age. Two controls groups were defined: controls with polyhydramnios (n=72) and control without polyhydramnios (n=72). Amniotic fluid aldosterone was compared between the three groups. The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) did not differ significantly from that in the controls with polyhydramnios (90 pg/mL, p=0.33) or the controls without polyhydramnios (87 pg/mL, p=0.41). In conclusion, amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome.
authors.affiliation: Service de biochimie-hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.
authors.forename: Myriam
authors.initials: M
authors.lastname: Rachid
authors.affiliation: Service de biochimie-hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Dreux
authors.affiliation: Service de biochimie-hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.
authors.forename: Gauthier
authors.initials: G
authors.lastname: Pean de Ponfilly
authors.affiliation: Département de génétique, Hôpital européen Georges Pompidou, AP-HP, Paris, France.
authors.forename: Rosa
authors.initials: R
authors.lastname: Vargas-Poussou
authors.affiliation: Service de biochimie-hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Czerkiewicz
authors.affiliation: Service de biochimie-hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Chevenne
authors.affiliation: Service de gynécologie-obstétrique, Hôpital Robert Debré, AP-HP, Paris, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Oury
authors.affiliation: Service de néphrologie pédiatrique, Hôpital Robert Debré, AP-HP, Paris, France.
authors.forename: Georges
authors.initials: G
authors.lastname: Deschênes
authors.affiliation: Service de biochimie-hormonologie, Hôpital Robert Debré, AP-HP, Paris, France, Service de biochimie, Université Versailles Saint-Quentin-en-Yvelines, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Muller
mesh_terms: D000450:Aldosterone / Q000032:analysis*; D000653:Amniotic Fluid / Q000737:chemistry*; D001477:Bartter Syndrome / Q000175:diagnosis*; D016022:Case-Control Studies; D005260:Female; D005865:Gestational Age; D006801:Humans; D006929:Hyperaldosteronism / Q000151:congenital / Q000175:diagnosis; D006831:Polyhydramnios / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011863:Radioimmunoassay; D012189:Retrospective Studies
chemical_list: D000450:Aldosterone
keywords: amniotic fluid biochemistry; antenatal diagnosis; hyper-aldosteronism; polyhydramnios; polyuria; tubular disorder