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Transient Antenatal Bartter’s Syndrome: A Case Report
Antenatal Bartter’s syndrome is a rare inherited disorder characterized by fetal polyhydramnios and polyuria that is usually detected between 24 and 30 weeks of gestation. However, a rare, severe, but transient form of antenatal Bartter’s syndrome due to an x-linked melanoma-associated antigen D2 (M...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857533/ https://www.ncbi.nlm.nih.gov/pubmed/29594084 http://dx.doi.org/10.3389/fped.2018.00051 |
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author | Meyer, Michelle Berrios, Margarita Lo, Christina |
author_facet | Meyer, Michelle Berrios, Margarita Lo, Christina |
author_sort | Meyer, Michelle |
collection | PubMed |
description | Antenatal Bartter’s syndrome is a rare inherited disorder characterized by fetal polyhydramnios and polyuria that is usually detected between 24 and 30 weeks of gestation. However, a rare, severe, but transient form of antenatal Bartter’s syndrome due to an x-linked melanoma-associated antigen D2 (MAGED2) mutation has recently been described. This transient type results in the earlier onset of severe polyhydramnios and preterm birth, but spontaneously resolves postnatally. Here, we present a case of a 29-week gestation male born to a mother with severe polyhydramnios, who was subsequently found to have a novel mutation for MAGED2 not previously reported. This is the first and only case not to be treated with indomethacin, yet still resulted in spontaneous resolution of symptoms. Our case suggests the need for awareness of and testing for this new mutation in cases of severe antenatal polyhydramnios and discusses the perinatal treatment of this condition. |
format | Online Article Text |
id | pubmed-5857533 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-58575332018-03-28 Transient Antenatal Bartter’s Syndrome: A Case Report Meyer, Michelle Berrios, Margarita Lo, Christina Front Pediatr Pediatrics Antenatal Bartter’s syndrome is a rare inherited disorder characterized by fetal polyhydramnios and polyuria that is usually detected between 24 and 30 weeks of gestation. However, a rare, severe, but transient form of antenatal Bartter’s syndrome due to an x-linked melanoma-associated antigen D2 (MAGED2) mutation has recently been described. This transient type results in the earlier onset of severe polyhydramnios and preterm birth, but spontaneously resolves postnatally. Here, we present a case of a 29-week gestation male born to a mother with severe polyhydramnios, who was subsequently found to have a novel mutation for MAGED2 not previously reported. This is the first and only case not to be treated with indomethacin, yet still resulted in spontaneous resolution of symptoms. Our case suggests the need for awareness of and testing for this new mutation in cases of severe antenatal polyhydramnios and discusses the perinatal treatment of this condition. Frontiers Media S.A. 2018-03-12 /pmc/articles/PMC5857533/ /pubmed/29594084 http://dx.doi.org/10.3389/fped.2018.00051 Text en Copyright © 2018 Meyer, Berrios and Lo. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Meyer, Michelle Berrios, Margarita Lo, Christina Transient Antenatal Bartter’s Syndrome: A Case Report |
title | Transient Antenatal Bartter’s Syndrome: A Case Report |
title_full | Transient Antenatal Bartter’s Syndrome: A Case Report |
title_fullStr | Transient Antenatal Bartter’s Syndrome: A Case Report |
title_full_unstemmed | Transient Antenatal Bartter’s Syndrome: A Case Report |
title_short | Transient Antenatal Bartter’s Syndrome: A Case Report |
title_sort | transient antenatal bartter’s syndrome: a case report |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857533/ https://www.ncbi.nlm.nih.gov/pubmed/29594084 http://dx.doi.org/10.3389/fped.2018.00051 |
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