Abstract

Congenital chloride diarrhea is a rare, autosomal recessive disorder caused by mutations in the SLC26A3 gene. The primary defect is in the Cl-/HCO3 exchange mechanism of the distal ileum and colon, causing impaired active chloride absorption and bicarbonate secretion. It is characterized by chronic, watery diarrhea with a high fecal chloride concentration, hyponatremia, and hypochloremic metabolic alkalosis. A 12-month-old boy with congenital chloride diarrhea diagnosed by high fecal chloride concentration is presented

Keywords: Childhood, Diarrhea, Chlorine, Congenital, Chronic

References

  1. Iijima S, Ohzeki T. A case of congenital chloride diarrhea: Information obtained through long-term follow-up with reduced electrolyte substitution. Clin J Gastroenterol 2008;1:28-31.
  2. Holmberg C. Congenital chloride diarrhoea. Clinics in Gastroenter 1986;15:583-602.
  3. Hihnala S, Höglund P, Lammi L, Kokkonen J, Örmala T, et all. Long- term clinical outcome in patients with congenital chloride diarrhea. J Pediatr Gastroenterol Nutr 2006;42:369-75.
  4. Makela S, Kere J, Holmberg C, Höglund P. SLC26A3 mutations in congenital chloride diarrhea. Human mutat 2002;20:425-38.
  5. Kere J, Lohi H, Höglund P. Genetic Disorder of Membrane Transport III. Congenital chloride diarrhea. Am J Physiol 1999;276:7-13.
  6. Tsukimori K, Nakanami N, Wake N, Masumoto K, Taguchi T. Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. J Ultrasound Med 2007;26:1805-7.
  7. Ozen H, Tanrıöğer N. Congenital chloride diarrhea in a Turkish boy. Turk J Pediatr 1996;38:235-8.
  8. Shanthala CC, Maiya PP, Benakappa N, Sajeev BK. Congenital chloride diarrhea. Indian J Pediatr 1996;63:254-6.
  9. Höglund P, Holmberg C, Sherman P, Kere J. Distinc outcomes of chloride diarrhoe in two siblings with identical genetic background of the disease: Implications for early diagnosis and treatment. Gut 2001;48:724-7.
  10. Canani RB, Terrin G, Cırıllo P, Castaldo G, Salvatore F, Cardillo G, et al. Butyrate as an effective treatment of congenital chloride diarrhea. Gastroenterology 2004;127:630-4.
  11. Wedenoja S, Holmberg C, Höglund P. Oral butyrate in treatment of congenital chloride diarrhea. Am J Gastroenterol 2008;103:252-4.

Copyright and license

How to cite

1.
Polat E, Kunak B, Tuygun N, Acar M, Atbinici Z, Ertan Ü. Congenital Chloride Diarrhea. Turk J Pediatr Dis [Internet]. 2013 Oct. 1 [cited 2025 May 24];7(3):147-8. Available from: https://turkjpediatrdis.org/article/view/227