Literature DB >> 27633862

Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition.

Raymond Quigley1, Jeffrey M Saland2.   

Abstract

The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.
Copyright © 2016 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

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Year:  2016        PMID: 27633862     DOI: 10.1016/j.kint.2016.07.031

Source DB:  PubMed          Journal:  Kidney Int        ISSN: 0085-2538            Impact factor:   10.612


  5 in total

1.  Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

Authors:  Anne Legrand; Cyrielle Treard; Isabelle Roncelin; Sophie Dreux; Aurélia Bertholet-Thomas; Françoise Broux; Daniele Bruno; Stéphane Decramer; Georges Deschenes; Djamal Djeddi; Vincent Guigonis; Nadine Jay; Tackwa Khalifeh; Brigitte Llanas; Denis Morin; Gilles Morin; François Nobili; Christine Pietrement; Amélie Ryckewaert; Rémi Salomon; Isabelle Vrillon; Anne Blanchard; Rosa Vargas-Poussou
Journal:  Clin J Am Soc Nephrol       Date:  2017-11-16       Impact factor: 8.237

Review 2.  Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

Authors:  Robert Kleta; Detlef Bockenhauer
Journal:  J Am Soc Nephrol       Date:  2017-12-13       Impact factor: 10.121

3.  A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios.

Authors:  Xiaoxia Wu; Le Huang; Caiqun Luo; Yang Liu; Jianmin Niu
Journal:  Front Pediatr       Date:  2021-12-01       Impact factor: 3.418

Review 4.  Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.

Authors:  Laura Nuñez-Gonzalez; Noa Carrera; Miguel A Garcia-Gonzalez
Journal:  Int J Mol Sci       Date:  2021-10-22       Impact factor: 5.923

5.  A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.

Authors:  Mingsheng Ma; Mengqi Zhang; Yu Zhou; Fengxia Yao; Min Wei; Zhenghong Li; Zhengqing Qiu
Journal:  BMC Nephrol       Date:  2021-12-11       Impact factor: 2.388

  5 in total

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