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.
2021
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]
File in questo prodotto:
File Dimensione Formato  
jjab056.pdf

accesso aperto

Tipologia: Documento in Post-print
Licenza: Dominio pubblico
Dimensione 855.55 kB
Formato Adobe PDF
855.55 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/850884
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 14
  • ???jsp.display-item.citation.isi??? 12
social impact