Original paper
Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation
Abstract
Congenital chloride diarrhoea (CLD) is a rare autosomal recessive disease with chronic secretory diarrhoea and a need for lifelong salt replacement therapy. We describe a male newborn of consanguineous parents with CLD. Postnatally, frequent watery diarrhoea and electrolyte disturbances were noted from the day 8 of his life. At molecular level, a homozygous mutation was detected in the solute carrier family 26 member A3 gene ( SLC26A3 ),...
Paper Details
Title
Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation
Published Date
Apr 26, 2012
Journal
Volume
101
Issue
6
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Notes
History