If I ever see an infant with Congenital Sodium Diarrhea (CSD), I will revisit: AR Janecke et al JPGN 2016; 63: 170-6.
A couple of pointers from this article:
- CSD represents a group of clinical conditions with high fecal sodium losses at birth Three mutations: SPINT2, GUCY2C, and SLC9A3 account for the majority of cases.
- IBD occurs in some of these children.
- GUCY2C causes a secondary loss of sodium-proton antiporter 3 function related to mutations in the receptor for guanylate cyclase C (GC-C). (I find this particularly interesting due to work in my fellowship with guanylin which binds to GC-C.)
- SPINT2 is associated with a syndromic CSD which may include choanal/intestinal atresias, cleft palate, hypertelorism, and polydactaly. Unlike classical CSD (due to SLC9A3), this form of CSD is characterized by associated villous atropy and some characteristic tufts.
- Table 1 lists other causes on the differential diagnosis including microvillus inclusion disease and epthelial dysplasia (tufting enteropathy)
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