Search results
Results From The WOW.Com Content Network
Congenital chloride diarrhea (CCD, also congenital chloridorrhea or Darrow Gamble syndrome) is a genetic disorder due to an autosomal recessive mutation on chromosome 7. The mutation is in downregulated-in-adenoma (DRA), a gene that encodes a membrane protein of intestinal cells .
Congenital tufting enteropathy is an inherited disorder of the small intestine that presents with intractable diarrhea in ... Congenital chloride diarrhoea ...
Congenital chloride diarrhea, a lifelong condition caused by a genetic mutation that leads to diarrhea with a high concentration of chloride. [ 21 ] Congenital sodium diarrhea, a genetic disorder caused by mutations in electrolyte transporters that disrupt the transport of Na + across the intestine and results in high levels of Na + greater ...
Mutations in this gene have been associated with congenital chloride diarrhoea, [5] a treatable disease. The congenital absence of this membrane protein results in an autosomal recessive disorder called congenital chloridorrhea or congenital chloride diarrhea (CLD). [8]
Congenital chloride diarrhea – rare for being a diarrhea that causes alkalosis instead of acidosis. [ 3 ] Contraction alkalosis – This results from a loss of water in the extracellular space, such as from dehydration.
An example of a chloride-bicarbonate antiporter is the chloride anion exchanger, also known as down-regulated in adenoma (protein DRA). It is found in the intestinal mucosa, especially in the columnar epithelium and goblet cells of the apical surface of the membrane, where it carries out the function of chloride and bicarbonate exchange. [39]
Congenital chloride diarrhea, a rare disorder in babies; Continuity of Care Document, an XML-based markup standard for patient medical document exchange; Cross-reactive carbohydrate determinants, protein-linked carbohydrate structures that have a role in the phenomenon of cross-reactivity in allergic patients
Bartter syndrome is a renal salt-wasting disease. Exome sequencing revealed an unexpected well-conserved recessive mutation in a gene called SLC26A3 which is associated with congenital chloride diarrhea (CLD). This molecular diagnosis of CLD was confirmed by the referring clinician.