Article
Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea.
Journal of Crohn's & colitis - 7 Oct 2021
Norsa Lorenzo, Berni Canani Roberto, Duclaux-Loras Remi, Bequet Emeline, Köglmeier Jutta, Russell Richard K, Uhlig Holm H, Travis Simon, Hollis Jennifer, Koletzko Sibylle, Grimaldi Giusi, Castaldo Giuseppe, Rodrigues Astor, Deflandre Jaques, Dembinski Lukasz, Shah Neil, Heinz-Erian Peter, Janecke Andreas, Leskinen Saara, Wedenoja Satu, Koskela Ritva, Lachaux Alain, Kolho Kaija-Leena, Ruemmele Frank M
Abstract excerpt
BACKGROUND: Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients suffer from life-long watery diarrhoea and chloride loss. Inflammatory bowel disease [IBD] has been reported in individual patients with CLD and in scl26a3-deficient mice. METHODS: We performed an international multicentre analysis to build a...
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