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...

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Detalles Bibliográficos
Autores principales: Cendal, Izabela, Szafrańska, Agnieszka, Fuchs, Tomasz, Patkowski, Dariusz, Smigiel, Robert, Królak-Olejnik, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
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

Internet

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

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