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 diarrhea and chloride loss. Inflammatory bowel disease (IBD) has been reported in individual patients with CLD and in scl26a3-deficient mice.
Inflammatory bowel disease in patients with congenital chloride diarrhoea / 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. - In: JOURNAL OF CROHN'S AND COLITIS. - ISSN 1873-9946. - 15:10(2021), pp. 1679-1685. [10.1093/ecco-jcc/jjab056]
Inflammatory bowel disease in patients with congenital chloride diarrhoea
Berni Canani, Roberto;Grimaldi, Giusi;Castaldo, Giuseppe;
2021
Abstract
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 diarrhea and chloride loss. Inflammatory bowel disease (IBD) has been reported in individual patients with CLD and in scl26a3-deficient mice.| File | Dimensione | Formato | |
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