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

Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
DOI: 10.1111/jpc.70067
Authors: Hatice Yilmaz Dagli, Nurten Özkan Zarif, Kıymet Çelik, Sema Arayici, Hakan Ongun, Reha Artan, İbrahim İnanç Mendilcioğlu
Institution: Akdeniz University
Language: English
Open Access status: hybrid
Estimated APC paid: $4,150
OpenAlex ID: W4409704193
FWCI: 0.261
Cites: 10
Cited by: 1
Related to: 10