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.
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This study was supported by Korean Health Technology R&D Project (HI12C0014), Ministry of Health & Welfare, Republic of Korea.
SB, DP, AS, PH and AB were involved in the clinical diagnosis and management. HC performed the sequencing of the gene SLC26A3. All authors were involved in preparation of the manuscript. AB will act as guarantor for this paper.
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Bhardwaj, S., Pandit, D., Sinha, A. et al. Congenital Chloride Diarrhea – Novel Mutation in SLC26A3 Gene. Indian J Pediatr 83, 859–861 (2016). https://doi.org/10.1007/s12098-015-1944-7