Congenital sodium diarrhea

Congenital sodium diarrhea (P78.3 according to ICD 10) is a rare autosomal recessive disease, clinically and genetically heterogeneous. The sodium absorption defect is caused by disruption of the intestinal sodium-proton pump in the non-syndromic form and in the epithelial sodium channels in the syndromic form. Mutations in 3 genes,SPINT2(localization19q13.2; OMIMcode 270420) syndromic form;GUCY2C(localization 12q12.3; OMIM code 601330) andSLC9A3(localization 5p15.33; OMIM code 616868) non-syndromic form, can cause congenital sodium diarrhea. The frequency of the disease is unknown, since it is rare, so far only 50 cases have been described. The classic non-syndromic form of congenital sodium diarrhea ismanifested by polyhydramnios, severe secretory diarrhea, severe metabolic acidosis, alkaline pH of feces 7.5 and hyponatremia. The syndrome of congenital sodium diarrhea is also manifested by choanal and/or anal atresia, hypertelorism and erosion of the cornea. Typical laboratory data include metabolic acidosis and alkaline pH of feces (fecal pH 7.5), low Na+concentrations. The concentration of Na+in the stool is increased. Prenatal ultrasound diagnosis allows you to identify gidroamnion and expansion of intestinal loops, starting from the third trimester of pregnancy. The diagnosis is confirmed by genetic studies. Treatment: complete parenteral nutrition with correction of water-salt metabolism. The forecast is unfavorable.