Non-syndromic Congenital Sodium Diarrhea: A Novel Mutation in the SLC9A3 Gene

Congenital sodium diarrhea (CSD) is a rare autosomal recessive disease characterized by polyhydramnios, hyponatremia, metabolic acidosis, and diarrhea with high sodium (Na⁺) content. The underlying mechanism of the disease is impaired intestinal sodium absorption. It was first described in 2 sporadic patients in 1985, and subsequently another ~50 cases have been reported (Holmberg C et al. J Pediatr 1985; 106: 56–61, Booth IW et al., Lancet 1985; 1: 1066–1069). CSD is clinically and genetically heterogeneous (Janecke AR et al., Hum Mol Genet 2015; 1;24: 6614–6623). Syndromic CDS is usually associated with choanal atresia, corneal erosion, and tufting enteropathy (Muller T et al., Gut 2016; 65: 1306–1313). Non-syndromic CDS is associated with pathological variants of SLC9A3 (solute carrier family 9, subfamily A, member 3; Mendelian Inheritance in Man [MIM] no. 182307), which are accompanied by CSD requiring enteral or parenteral sodium therapy in infancy, as well as inflammatory bowel disease secondary to subsequent microbiome changes (Elkadri AA, Clin Perinatol 2020; 47: 87–104). Herein we report a pediatric patient diagnosed as non-syndromic CSD with a novel SLC9A3 gene mutation.

Publication History

Article published online:
02 August 2024