Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

doi:10.1093/hmg/ddv367

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Article

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

Human molecular genetics - 1 Dec 2015

Janecke Andreas R, Heinz-Erian Peter, Yin Jianyi, Petersen Britt-Sabina, Franke Andre, Lechner Silvia, Fuchs Irene, Melancon Serge, Uhlig Holm H, Travis Simon, Marinier Evelyne, Perisic Vojislav, Ristic Nina, Gerner Patrick, Booth Ian W, Wedenoja Satu, Baumgartner Nadja, Vodopiutz Julia, Frechette-Duval Marie-Christine, De Lafollie Jan, Persad Rabindranath, Warner Neil, Tse C Ming, Sud Karan, Zachos Nicholas C, Sarker Rafiquel, Zhu Xinjun, Muise Aleixo M, Zimmer Klaus-Peter, Witt Heiko, Zoller Heinz, Donowitz Mark, Müller Thomas

Abstract excerpt

Congenital sodium diarrhea (CSD) refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. Syndromic CSD is caused by SPINT2 mutations. While we recently described four cases of the non-syndromic form of CSD that were caused by dominant activating mutations in intestinal receptor guanylate cyclase C (GC-C), the genetic cause for the...

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Identifiers

PMID: 26358773
DOI: 10.1093/hmg/ddv367
PMCID: PMC4634371

Genes

SPINT2

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Source receipt: pubmed, retrieved 7 Sept 2026.

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