Congenital chloride diarrhea

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

## Overview

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Congenital chloride diarrhea (CCD, also congenital chloridorrhea) 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. The protein belongs to the solute carrier 26 family of membrane transport proteins.[1] More than 20 mutations in the gene are known to date. A rare disease, CCD occurs in all parts of the world but is more common in some populations with genetic founder effects,[2] most notably in Finland.

## Pathophysiology

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CCD causes persistent secretory diarrhea. In a fetus, it leads to polyhydramnios and premature birth. Immediately after birth, it leads to dehydration, hypoelectrolytemia, hyperbilirubinemia, abdominal distention, and failure to thrive.[3]

## Diagnosis

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CCD may be detectable on prenatal ultrasound.[4][5] After birth, signs in affected babies typically are abdominal distension, visible peristalsis, and watery stools persistent from birth that show chloride loss of more than 90 mmol/l.[5] An important feature in this diarrhea that helps in the diagnosis, is that its the only type of diarrhea that causes metabolic alkalosis rather than metabolic acidosis.

## Treatment

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Available treatments address the symptoms of CCD, not the underlying defect. Early diagnosis and aggressive salt replacement therapy result in normal growth and development, and generally good outcomes. Replacement of NaCl and KCl has been shown to be effective in children.[6]

A potential treatment is butyrate.[7]

## History

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Observations leading to the characterization of the SLC26 family were based on research on rare human diseases. Three rare recessive diseases in humans have been shown to be caused by genes of this family. Diastrophic dysplasia, congenital chloride diarrhea, and Pendred syndrome are caused by the highly related genes SLC26A2 (first called DTDST), SLC26A3 (first called CLD or DRA), and SLC26A4 (first called PDS), respectively.[8] Two of these diseases, diastrophic dysplasia and congenital chloride diarrhea, are Finnish heritage diseases.

## References

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1. ↑ Dorwart MR, Shcheynikov N, Yang D, Muallem S (2008). "The solute carrier 26 family of proteins in epithelial ion transport". Physiology (Bethesda, Md.). 23: 104–14. doi:10.1152/physiol.00037.2007. PMID 18400693. Unknown parameter `|month=` ignored (help)CS1 maint: Multiple names: authors list (link)
2. ↑ Kere J, Lohi H, Höglund P (1999). "Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea". The American Journal of Physiology. 276 (1 Pt 1): G7–G13. PMID 9886972. Unknown parameter `|month=` ignored (help)CS1 maint: Multiple names: authors list (link)
3. ↑ Mäkelä S, Kere J, Holmberg C, Höglund P (2002). "SLC26A3 mutations in congenital chloride diarrhea". Human Mutation. 20 (6): 425–38. doi:10.1002/humu.10139. PMID 12442266. Unknown parameter `|month=` ignored (help)CS1 maint: Multiple names: authors list (link)
4. ↑ Rose NC, Kaplan P, Scott S, Kousoulis A, Librizzi R (1992). "Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature". American Journal of Perinatology. 9 (5–6): 398–400. doi:10.1055/s-2007-999274. PMID 1418143.CS1 maint: Multiple names: authors list (link)
5. ↑ 5.0 5.1 Abdullah AM, Shaheed MM, Katugampola SM, Patel PJ (1990). "Congenital chloride diarrhoea: case report and review of the literature". Annals of Tropical Paediatrics. 10 (1): 71–4. PMID 1694648. Unknown parameter `|month=` ignored (help)CS1 maint: Multiple names: authors list (link)
6. ↑ Hihnala S, Höglund P, Lammi L, Kokkonen J, Ormälä T, Holmberg C (2006). "Long-term clinical outcome in patients with congenital chloride diarrhea". Journal of Pediatric Gastroenterology and Nutrition. 42 (4): 369–75. doi:10.1097/01.mpg.0000214161.37574.9a. PMID 16641574. Unknown parameter `|month=` ignored (help)CS1 maint: Multiple names: authors list (link)
7. ↑ Canani RB, Terrin G, Cirillo P, Castaldo G, Salvatore F, Cardillo G, Coruzzo A, Troncone R (2004). "Butyrate as an effective treatment of congenital chloride diarrhea". Gastroenterology. 127 (2): 630–4. doi:10.1053/j.gastro.2004.03.071. PMID 15300594. Unknown parameter `|month=` ignored (help)CS1 maint: Multiple names: authors list (link)
8. ↑ Kere J (2006). "Overview of the SLC26 family and associated diseases". Novartis Foundation Symposium. 273: 2–11, discussion 11–8, 261–4. doi:10.1002/0470029579.ch2. PMID 17120758.

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