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Diarrhea 1, secretory chloride, congenital (DIAR1)

Genes

  • Solute carrier family 26 member 3 (SLC26A3)

Summary

Chloride diarrhea, congenital, Finnish type, also known as Congenital chloride diarrhea (CLD) is an intestinal transport defect of chloride ions resulting from deficient function of a chloride/bicarbonate exchanger protein, encoded by Solute carrier family 26, member 3 gene (SLC26A3), at the intestinal brush border. SLC26A3 gene is located on chromosome 7q22-31. Retention of intestinal chloride causes water retention, which leads to watery diarrhea with an abnormally high chloride concentration. Bicarbonate retention in blood, on the other hand, leads to metabolic alkalosis. Hyponatremia, hypokalemia and hypochloridemia are found in blood chemistry. Hyperaldosterism and hyperreninemia are secondary changes to the transport defect. This defect presents in utero, with hydramnion presumably due to intrauterine diarrhea. The gestational period is shortened, and newborn babies have abdominal distension and chronic watery diarrhea. If untreated, the condition leads to severe electrolyte changes with a fatal outcome, or to permanent damage of kidneys and brain. Treatment with chloride substitution and control of electrolyte balance is effective, and patients can live an almost normal life complicated only by relatively loose stools. Typical clinical findings associated with electrolyte changes in stools (chloride >90 mmol/l) and in plasma confirm the diagnosis. A gene test is also available.

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UMLS Concept names

Selected publications

  • Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A, Kere J. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet. 1996 Nov;14(3):316-9. PMID:8896562 (Pubmed)
  • Wedenoja S, Pekansaari E, Höglund P, Mäkelä S, Holmberg C, Kere J. Update on SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2011 Jul;32(7):715-22. Review. PMID:21394828 (Pubmed)