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Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations

Kamel Laghmani1, Bodo B Beck1, Sung-Sen Yang1

  • 1From INSERM, Centre de Recherche des Cordeliers, Unité 1138, Centre National de la Recherche Scientifique, ERL8228 Université Pierre et Marie Curie and Université Paris-Descartes, Paris (K.L., E.S., S.D.); Institute of Human Genetics (B.B.B., A.W., B.R., J.A., G.Y.), Department of Pathology (H.G.), Cologne Center for Genomics and Center for Molecular Medicine (H.T., J.A., P.N.), Department II of Internal Medicine and Center for Molecular Medicine Cologne (M.P.B., T.B., M.M.R.), and Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases and Systems Biology of Aging Cologne (T.B., M.M.R.) - all at the University of Cologne, Cologne, the Department of Cellular and Integrative Physiology, University Medical Center Hamburg, Hamburg (H.V.), University Children's Hospital, Philipps University Marburg (H.W.S.), and Kuratorium für Heimdialyse, Pediatric Kidney Center (G.K.), Marburg, the Institute of Human Genetics, University Health Services Göttingen, Göttingen (G.Y.), and the Department of General Pediatrics, University Hospital Münster, Münster (K.P.S., M. Konrad) - all in Germany; the Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center (S.-S.Y., S.-H.L.), and Institute of BioMedical Sciences, Academia Sinica (S.-S.Y.) - both in Taipei, Taiwan; the Department of Biomedical Molecular Biology, Inflammation Research Center, VIB/Ghent University, Ghent (D.P., M.J.M.B.), Unité de Recherche en Physiologie Moléculaire, University of Namur, Namur (C.D., O.B.), and the Division of Nephrology, University Children's Hospital Leuven (E.L.) - all in Belgium; the Divisions of Neonatology (K.B.) and Nephrology (M. Kömhoff), Beatrix Children's Hospital, and the Departments of Obstetrics and Gynecology (L.K.D., S.A.S.), Pathology and Medical Biology (A.T.), and Genetics (T.J.K.) - all at University Medical Center Groningen, Groningen, the Netherlands; and University Children's Hospital Graz

The New England Journal of Medicine
|April 28, 2016
PubMed
Summary

Mutations in the MAGED2 gene cause a severe, transient form of antenatal Bartter's syndrome in male infants. This X-linked condition affects fetal kidney salt reabsorption and pregnancy maintenance.

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