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, L., Berni Canani, R., Duclaux-Loras, R., Bequet, E., Köglmeier, J., Russell, R.K., Uhlig, H.H., Travis, S., Hollis, J., Koletzko, S., Grimaldi, G., Castaldo, G., Rodrigues, A., Deflandre, J., Dembinski, L., Shah, N., Heinz-Erian, P., Janecke, A., Leskinen, S., Wedenoja, S., et al.. - 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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