Article
Long-term clinical outcome in patients with congenital chloride diarrhea.
Journal of pediatric gastroenterology and nutrition - 1 Apr 2006
Hihnala Satu, Höglund Pia, Lammi Laura, Kokkonen Jorma, Ormälä Timo, Holmberg Christer
Abstract excerpt
OBJECTIVES: Congenital chloride diarrhea (CLD) is a rare, autosomal recessive disorder of intestinal Cl/HCO3 exchange caused by mutations in the SLC26A3 gene and characterized by persistent Cl rich diarrhea from birth. Treatment is symptomatic and replacement therapy with NaCl and KCl has been shown to be effective in children, but the long-term prognosis remains unclear. We studied the largest known cohort of...
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