Non‐Syndromic Congenital Sodium Diarrhoea With a SLC9A3 Gene Variant: A Case Report

OpenAlex İngilizce

Congenital sodium diarrhoea (CSD) is a rare autosomal recessive disease characterised by polyhydramnios, hyponatraemia, metabolic acidosis and diarrhoea with high sodium content, and fewer than 50 cases have been reported in the literature to date [1].We believe that a high level of suspicion is important for the diagnosis and early treatment of the disease.