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Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone
Author(s) -
Rachid Myriam L.,
Dreux Sophie,
Pean de Ponfilly Gauthier,
VargasPoussou Rosa,
Czerkiewicz Isabelle,
Chevenne Didier,
Oury JeanFrançois,
Deschênes Georges,
Muller Françoise
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4717
Subject(s) - bartter syndrome , amniotic fluid , medicine , prenatal diagnosis , hyperaldosteronism , aldosterone , bartter's syndrome , amniocentesis , obstetrics , endocrinology , pregnancy , fetus , biology , hypokalemia , genetics
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). Conclusion Amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome. © 2015 John Wiley & Sons, Ltd.