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Volume 355:1833-1834 October 26, 2006 Number 17
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Causes of Chronic Diarrhea

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 by Binder, H. J.
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To the Editor: In the table about congenital diarrheal disorders in the Perspective by Binder (July 20 issue),1 congenital sodium diarrhea is attributed to mutations in the gene encoding the sodium–hydrogen exchanger (NHE) isoform 3 (SLC9A3, also known as NHE3). Although NHE3-knockout mice (those deficient in Slc9a3) are the only available animal model of congenital diarrhea,2 genetic analyses of patients with congenital sodium diarrhea have excluded all mapped NHE loci except NHE4 (which houses SLC9A4), but even this locus has not been firmly implicated.3,4


Daniele Focosi, M.D.
Azienda Ospedaliera Universitaria Santa Chiara
56100 Pisa, Italy
dfocosi@tin.it

  1. Binder HJ. Causes of chronic diarrhea. N Engl J Med 2006;355:236-239. [Free Full Text]
  2. Schultheis PJ, Clarke LL, Meneton P, et al. Renal and intestinal absorptive defects in mice lacking the NHE3 Na+/H+ exchanger. Nat Genet 1998;19:282-285. [CrossRef][ISI][Medline]
  3. Muller T, Wijmenga C, Phillips AD, et al. Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. Gastroenterology 2000;119:1506-1513. [CrossRef][ISI][Medline]
  4. Online Mendelian Inheritance in Man (OMIM) database. Diarrhea 3, secretory sodium, congenital. (Accessed October 5, 2006, at http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270420.)

 
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