Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene.

Abstract

The authors report a case of congenital chloride diarrhea with molecular confirmation of diagnosis. A 10-mo-old boy presented with failure to thrive, voluminous diarrhea, dehydration, hyponatremia, hypokalemia, metabolic alkalosis and history of maternal polyhydramnios. The diagnosis of congenital chloride diarrhea was based on high fecal and low urinary chloride excretion, in addition to biochemical abnormalities. Genetic testing revealed a novel homozygous mutation in exon 4 of the SLC26A3 gene that encodes the protein regulating chloride bicarbonate absorption in distal ileum and colon. Therapy with oral fluids and electrolytes led to decrease in stool frequency and improvement in growth parameters.

• Authors: Swati Bhardwaj, Deepti Pandit, Aditi Sinha, Pankaj Hari, Hae Il Cheong, Arvind Bagga
• Journal: Indian journal of pediatrics (Indian J Pediatr) Vol. 83 Issue 8 Pg. 859-61 (Aug 2016) ISSN: 0973-7693 [Electronic] India
• PMID: 26637435 (Publication Type: Case Reports, Journal Article)

Chemical References

• Chloride-Bicarbonate Antiporters
• Chlorides
• SLC26A3 protein, human
• Sulfate Transporters

Topics

• Chloride-Bicarbonate Antiporters (genetics)
• Chlorides
• Diarrhea (congenital, genetics)
• Humans
• Infant
• Male
• Metabolism, Inborn Errors (genetics)
• Mutation
• Sulfate Transporters