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Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea

Congenital chloride diarrhea (CCD) is an autosomal recessive hereditary disease manifested by persistent, watery, profuse diarrhea with high chloride concentration (>90 mmol/L). Postnatally, neonates suffer from hypochloremia, hyponatremia, hypokalemia, metabolic alkalosis, dehydration, developme...

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Autores principales: Wu, Siqi, Han, Jin, Zhang, Yongling, Ye, Zhichao, Lu, Ping, Tian, Kege
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899882/
https://www.ncbi.nlm.nih.gov/pubmed/31499577
http://dx.doi.org/10.1111/jog.14089
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author Wu, Siqi
Han, Jin
Zhang, Yongling
Ye, Zhichao
Lu, Ping
Tian, Kege
author_facet Wu, Siqi
Han, Jin
Zhang, Yongling
Ye, Zhichao
Lu, Ping
Tian, Kege
author_sort Wu, Siqi
collection PubMed
description Congenital chloride diarrhea (CCD) is an autosomal recessive hereditary disease manifested by persistent, watery, profuse diarrhea with high chloride concentration (>90 mmol/L). Postnatally, neonates suffer from hypochloremia, hyponatremia, hypokalemia, metabolic alkalosis, dehydration, developmental retardation, or even death. Prenatal diagnosis is of great importance for the prognosis of CCD. We report a prenatal recurrent case of CCD. Prenatal ultrasound revealed fetal diffuse intestinal dilation with the typical honeycomb sign and polyhydramnios with high amniotic fluid index. The whole exome capture and massively‐parallel DNA sequencing showed an abnormal mutation of Solute Carrier Family 26, Member 3 (SLC26A3), c.1039G>A (p.Ala347Thr), and the mutation sites were verified by sanger sequencing. When prenatal ultrasound shows polyhydramnios and diffuse intestinal dilation, CCD should be suspected. Molecular genetic testing can be helpful for the diagnosis.
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spelling pubmed-68998822019-12-19 Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea Wu, Siqi Han, Jin Zhang, Yongling Ye, Zhichao Lu, Ping Tian, Kege J Obstet Gynaecol Res Case Reports Congenital chloride diarrhea (CCD) is an autosomal recessive hereditary disease manifested by persistent, watery, profuse diarrhea with high chloride concentration (>90 mmol/L). Postnatally, neonates suffer from hypochloremia, hyponatremia, hypokalemia, metabolic alkalosis, dehydration, developmental retardation, or even death. Prenatal diagnosis is of great importance for the prognosis of CCD. We report a prenatal recurrent case of CCD. Prenatal ultrasound revealed fetal diffuse intestinal dilation with the typical honeycomb sign and polyhydramnios with high amniotic fluid index. The whole exome capture and massively‐parallel DNA sequencing showed an abnormal mutation of Solute Carrier Family 26, Member 3 (SLC26A3), c.1039G>A (p.Ala347Thr), and the mutation sites were verified by sanger sequencing. When prenatal ultrasound shows polyhydramnios and diffuse intestinal dilation, CCD should be suspected. Molecular genetic testing can be helpful for the diagnosis. John Wiley & Sons Australia, Ltd 2019-09-09 2019-11 /pmc/articles/PMC6899882/ /pubmed/31499577 http://dx.doi.org/10.1111/jog.14089 Text en © 2019 The Authors. Journal of Obstetrics and Gynaecology Research published by John Wiley & Sons Australia, Ltd on behalf of Japan Society of Obstetrics and Gynecology This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Wu, Siqi
Han, Jin
Zhang, Yongling
Ye, Zhichao
Lu, Ping
Tian, Kege
Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea
title Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea
title_full Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea
title_fullStr Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea
title_full_unstemmed Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea
title_short Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea
title_sort novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899882/
https://www.ncbi.nlm.nih.gov/pubmed/31499577
http://dx.doi.org/10.1111/jog.14089
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