Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

doi:10.1016/j.ajhg.2009.01.004

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Article

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

American journal of human genetics - 1 Feb 2009

Heinz-Erian Peter, Müller Thomas, Krabichler Birgit, Schranz Melanie, Becker Christian, Rüschendorf Franz, Nürnberg Peter, Rossier Bernard, Vujic Mihailo, Booth Ian W, Holmberg Christer, Wijmenga Cisca, Grigelioniene Giedre, Kneepkens C M Frank, Rosipal Stefan, Mistrik Martin, Kappler Matthias, Michaud Laurent, Dóczy Ludwig-Christoph, Siu Victoria Mok, Krantz Marie, Zoller Heinz, Utermann Gerd, Janecke Andreas R

Abstract excerpt

Autosomal-recessive congenital sodium diarrhea (CSD) is characterized by perinatal onset of a persistent watery diarrhea with nonproportionally high fecal sodium excretion. Defective jejunal brush-border Na(+)/H(+) exchange has been reported in three sporadic patients, but the molecular basis of the disease has not been elucidated. We reviewed data from a large cohort of CSD patients (n = 24) and distinguished...

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Identifiers

PMID: 19185281
DOI: 10.1016/j.ajhg.2009.01.004
PMCID: PMC2668003

Genes

SPINT2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.PMID 19185281Read ↗

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