Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report

• 主要な著者: Izabela Cendal (著者), Agnieszka Szafrańska (著者), Tomasz Fuchs (著者), Dariusz Patkowski (著者), Robert Smigiel (著者), Barbara Królak-Olejnik (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...