A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea

Congenital sodium diarrhea(CSD)is a monogenic disordercausedby specific geneticdefects that increase sodium content in the stool,resulting in intractable diarrhea.The disease was first reported by Holmberg in 1985[1].Fewerthan50cases havebeen reportedworldwide todate,mainly in Europe(Germany and Sweden)and Oceania(Australia),while no cases have been reported in China.Therearetwocategories of CSDdependingonwhetherit involves other congenital malformations:non-syndromic congenital sodium diarrhea(non-sCSD)and syndromic congenital sodium diarrhea(sCSD).Fornon-sCSD,the identified causative genes include SLC9A3 and GUCY2C,whereas sCSD is primarily caused bySPINT2mutations[2].