title: 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.affiliation: Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors.forename: Swati
authors.initials: S
authors.lastname: Bhardwaj
authors.affiliation: Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors.forename: Deepti
authors.initials: D
authors.lastname: Pandit
authors.affiliation: Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors.forename: Aditi
authors.initials: A
authors.lastname: Sinha
authors.affiliation: Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Hari
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.|Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, South Korea.|Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
authors.affiliation: Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India. arvindbagga@hotmail.com.
authors.forename: Arvind
authors.initials: A
authors.lastname: Bagga
mesh_terms: D027963:Chloride-Bicarbonate Antiporters / Q000235:genetics*; D002712:Chlorides; D003967:Diarrhea / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D000076988:Sulfate Transporters
chemical_list: D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters
keywords: Chloride diarrhea; Metabolic alkalosis; SLC26A3