Cargando…
Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report
Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In the prenatal period, the symptoms of CCD may include...
Autores principales: | , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721094/ https://www.ncbi.nlm.nih.gov/pubmed/34988036 http://dx.doi.org/10.3389/fped.2021.758006 |
_version_ | 1784625261233307648 |
---|---|
author | Cendal, Izabela Szafrańska, Agnieszka Fuchs, Tomasz Patkowski, Dariusz Smigiel, Robert Królak-Olejnik, Barbara |
author_facet | Cendal, Izabela Szafrańska, Agnieszka Fuchs, Tomasz Patkowski, Dariusz Smigiel, Robert Królak-Olejnik, Barbara |
author_sort | Cendal, Izabela |
collection | PubMed |
description | Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In the prenatal period, the symptoms of CCD may include polyhydramnios, preterm labor and abdominal distension. The main feature of CCD is chloride-rich diarrhea, which leads to excessive loss of fluid and salt immediately after birth and is followed by weight loss and dehydration. Hyponatremia and hypochloremia are soon accompanied by hypokalemia and metabolic alkalosis. Untreated CCD is fatal even in the first weeks of life. Diagnosis is made by high fecal chloride concentrations in patients with serum electrolytes corrected by salt substitution and confirmed using genetic testing of peripheral blood samples. Here, we detail prenatal and postnatal manifestations of a preterm infant, born via Caesarian section, who was suspected to suffer intrauterine bowel obstruction. Upper median laparotomy was performed and no intestinal abnormalities found. The course of the neonatal period was complicated by severe diarrhea with hypochloremia, hyponatremia and metabolic alkalosis. Based on the patient's clinical picture and stool examination, a diagnosis of CCD was established. Mutation of the SLC26A3 gene was confirmed using genetic testing. |
format | Online Article Text |
id | pubmed-8721094 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-87210942022-01-04 Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report Cendal, Izabela Szafrańska, Agnieszka Fuchs, Tomasz Patkowski, Dariusz Smigiel, Robert Królak-Olejnik, Barbara Front Pediatr Pediatrics Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In the prenatal period, the symptoms of CCD may include polyhydramnios, preterm labor and abdominal distension. The main feature of CCD is chloride-rich diarrhea, which leads to excessive loss of fluid and salt immediately after birth and is followed by weight loss and dehydration. Hyponatremia and hypochloremia are soon accompanied by hypokalemia and metabolic alkalosis. Untreated CCD is fatal even in the first weeks of life. Diagnosis is made by high fecal chloride concentrations in patients with serum electrolytes corrected by salt substitution and confirmed using genetic testing of peripheral blood samples. Here, we detail prenatal and postnatal manifestations of a preterm infant, born via Caesarian section, who was suspected to suffer intrauterine bowel obstruction. Upper median laparotomy was performed and no intestinal abnormalities found. The course of the neonatal period was complicated by severe diarrhea with hypochloremia, hyponatremia and metabolic alkalosis. Based on the patient's clinical picture and stool examination, a diagnosis of CCD was established. Mutation of the SLC26A3 gene was confirmed using genetic testing. Frontiers Media S.A. 2021-12-20 /pmc/articles/PMC8721094/ /pubmed/34988036 http://dx.doi.org/10.3389/fped.2021.758006 Text en Copyright © 2021 Cendal, Szafrańska, Fuchs, Patkowski, Smigiel and Królak-Olejnik. https://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(s) 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 Cendal, Izabela Szafrańska, Agnieszka Fuchs, Tomasz Patkowski, Dariusz Smigiel, Robert Królak-Olejnik, Barbara Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report |
title | Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report |
title_full | Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report |
title_fullStr | Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report |
title_full_unstemmed | Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report |
title_short | Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report |
title_sort | prenatal and postnatal manifestations of congenital chloride diarrhea due to a heterozygote variant of the slc26a3 gene: a case report |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721094/ https://www.ncbi.nlm.nih.gov/pubmed/34988036 http://dx.doi.org/10.3389/fped.2021.758006 |
work_keys_str_mv | AT cendalizabela prenatalandpostnatalmanifestationsofcongenitalchloridediarrheaduetoaheterozygotevariantoftheslc26a3geneacasereport AT szafranskaagnieszka prenatalandpostnatalmanifestationsofcongenitalchloridediarrheaduetoaheterozygotevariantoftheslc26a3geneacasereport AT fuchstomasz prenatalandpostnatalmanifestationsofcongenitalchloridediarrheaduetoaheterozygotevariantoftheslc26a3geneacasereport AT patkowskidariusz prenatalandpostnatalmanifestationsofcongenitalchloridediarrheaduetoaheterozygotevariantoftheslc26a3geneacasereport AT smigielrobert prenatalandpostnatalmanifestationsofcongenitalchloridediarrheaduetoaheterozygotevariantoftheslc26a3geneacasereport AT krolakolejnikbarbara prenatalandpostnatalmanifestationsofcongenitalchloridediarrheaduetoaheterozygotevariantoftheslc26a3geneacasereport |