Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea.

@article{Kere1999GeneticDO,
  title={Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea.},
  author={Juha Kere and Hannes T Lohi and Pia H{\"o}glund},
  journal={The American journal of physiology},
  year={1999},
  volume={276 1 Pt 1},
  pages={G7-G13}
}
Congenital chloride diarrhea (CLD) is a recessively inherited disorder of intestinal electrolyte absorption that involves, specifically, Cl-/HCO-3 exchange. CLD is caused by mutations in a chromosome 7 gene, first known as DRA (for downregulated in adenoma). The disease occurs in all parts of the world but is more common in some populations with genetic founder effects. More than 20 mutations in the gene are known to date. The CLD (or DRA) gene encodes a transmembrane protein belonging to the… CONTINUE READING