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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Publication : Annales de biologie clinique

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Annales de biologie clinique - 01 Apr 2017

Rachid M, Dreux S, Pean de Ponfilly G, Vargas-Poussou R, Czerkiewicz I, Chevenne D, Oury JF, Deschênes G, Muller F,

Link to Pubmed [PMID] – 28377333

Link to DOI – 10.1684/abc.2017.1229

Ann Biol Clin (Paris) 2017 Apr; 75(2): 204-208

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.

https://pubmed.ncbi.nlm.nih.gov/28377333