Congenital chloride diarrhea as a cause of congenital diarrhea: a case report

Yunus Coşar; Sibel Yavuz

doi:10.5281/zenodo.6501661

Authors

Yunus Coşar Department of Pediatrics, Adıyaman University Faculty of Medicine, Adıyaman, Turkey https://orcid.org/0000-0002-9395-7156
Sibel Yavuz Department of Pediatric Gastroenterology, Adıyaman University Training and Research Hospital, Adıyaman, Turkey https://orcid.org/0000-0002-6768-238X

DOI:

https://doi.org/10.5281/zenodo.6501661

Keywords:

child, dehydration, diarrhea

Abstract

Congenital chloride diarrhea (CCD) is a rare cause of neonatal-onset diarrhea, which is associated with hyponatremia, hypochloremia and metabolic alkalosis. Despite its rare occurrence, CCD should be kept in mind in patients presenting with symptoms of congenital diarrhea. Here, a case of CCD diagnosed in a 12-month-old female patient, based on high fecal chloride concentration and genetic analysis is presented.

References

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(1):28-31.

Holmberg C. Congenital chloride diarrhoea. Clin Gastroenterol. 1986;15(3):583-602.

Wedenoja S, Höglund P, Holmberg C. Review article: the clinical management of congenital chloride diarrhoea. Aliment Pharmacol Ther. 2010;31(4):477-85.

Kirkinen P, Jouppila P. Prenatal ultrasonic findings in congenital chloride diarrhoea. Prenat Diagn. 1984;4(6):457-61.

Shamaly H, Jamalia J, Omari H, Shalev S, Elias N. Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. J Perinatol. 2013;33(2):154-6.

Saneian H, Bahraminia E. Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. J Res Med Sci. 2013;18(9):822-4.

Bhardwaj S, Pandit D, Sinha A, Hari P, Cheong HI, Bagga A. Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. Indian J Pediatr. 2016;83(8):859-861.

Mäkelä S, Kere J, Holmberg C, Höglund P. SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2002;20(6):425-438.

Aichbichler BW, Zerr CH, Santa Ana CA, Porter JL, Fordtran JS. Proton-pump inhibition of gastric chloride secretion in congenital chloridorrhea. N Engl J Med. 1997;336(2):106-109.

Canani RB, Terrin G, Cirillo P, Castaldo G, Salvatore F, Cardillo G, Coruzzo A, Troncone R. Butyrate as an effective treatment of congenital chloride diarrhea. Gastroenterology. 2004 Aug;127(2):630-4.