Progress of congenital sodium diarrhea in children / 国际儿科学杂志

ABSTRACT

Congenital sodium diarrhea(CSD)refers to a rare and intractable secretory diarrhea of intrauterine onset with high fecal sodium loss which is caused by abnormal intestinal sodium absorption.Congenital sodium diarrhea is a disease with clinical and genetical heterogeneity.It can be classified as non-syndromic congenital sodium diarrhea(non-sCSD)and syndromic congenital sodium diarrhea(sCSD)according to the clinical features.The diagnosis of CSD is made based on the manifestation and genetic analysis.The mutations of CSD include SLC9A3 gene、GUCY2C gene and SPINT2 gene.The main treatment of CSD is symptomatic treatment and some of these patients will develop inflammatory bowel disease(IBD). Lifelong clinical and biological follow-up of patients is necessary.