Congenital chloride diarrhea (CLD) is an autosomal recessive disorder of intestinal electrolyte absorption. It is characterized by persistent secretory diarrhea resulting in polyhydramnios and prematurity prenatally, and dehydration, hypoelectrolytemia, hyperbilirubinemia, abdominal distention, and
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics
✍ Scribed by Jeana Hong, Jeong Kee Seo, Jae Sung Ko, Hae Il Cheong…
- Book ID
- 120907948
- Publisher
- Springer
- Year
- 2012
- Tongue
- English
- Weight
- 176 KB
- Volume
- 172
- Category
- Article
- ISSN
- 0340-6997
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Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with around 250 cases reported so far. Life-long secretory diarrhea is caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene disrupting the epithelial Cl À /HCO 3 À transport in the ileum and colon. Although
## Communicated by Mireille Claustres Congenital chloride diarrhea (CLD) is an autosomal recessive disorder characterized by defective intestinal electrolyte absorption, resulting in voluminous osmotic diarrhea with high chloride content. A variety of mutations in the solute carrier family 26, memb
An inherited defect in intestinal anion exchange, congenital chloride diarrhea (CLD), was recently shown to be caused by mutations in the down-regulated in adenoma (DRA) gene. A three base pair deletion resulting in the loss of an amino acid valine (V317del) in the predicted CLD/DRA protein was show