If I ever see an infant with Congenital Sodium Diarrhea

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)

Related blog posts:

Mountain Goat at Glacier Natl Park. Antenna part of a study.

Mountain Goat at Glacier Natl Park. Antenna part of a study.

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