Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone
| Autor: | Isabelle Czerkiewicz, Gauthier Pean de Ponfilly, Sophie Dreux, Myriam Rachid, J. F. Oury, Rosa Vargas-Poussou, D. Chevenne, Georges Deschênes, Françoise Muller |
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| Rok vydání: | 2017 |
| Předmět: |
Polyhydramnios
0301 basic medicine medicine.medical_specialty Amniotic fluid endocrine system diseases Radioimmunoassay Gestational Age Prenatal diagnosis 030105 genetics & heredity urologic and male genital diseases Bartter syndrome Gastroenterology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Polyuria Tubulopathy Pregnancy Prenatal Diagnosis Internal medicine Hyperaldosteronism medicine Humans Aldosterone Retrospective Studies 030219 obstetrics & reproductive medicine business.industry Bartter Syndrome Gestational age General Medicine Amniotic Fluid medicine.disease chemistry Pregnancy Trimester Second Case-Control Studies Female medicine.symptom business Biomarkers |
| Zdroj: | Annales de biologie clinique. 75:204-208 |
| ISSN: | 0003-3898 |
| DOI: | 10.1684/abc.2017.1229 |
| Popis: | 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.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.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).Amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome. © 2015 John WileySons, Ltd. |
| Databáze: | OpenAIRE |
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