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Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene.

Indian journal of pediatrics - 1 Aug 2016

Bhardwaj Swati, Pandit Deepti, Sinha Aditi, Hari Pankaj, Cheong Hae Il, Bagga Arvind

Abstract excerpt

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...

Topics

Chloride-Bicarbonate Antiporters
Chlorides
Diarrhea
Humans
Infant
Male
Metabolism, Inborn Errors
Mutation
Sulfate Transporters

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 26637435
DOI: 10.1007/s12098-015-1944-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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