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J apanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation
Author(s) -
Fuwa Kazumasa,
Hosono Shigeharu,
Nagano Nobuhiko,
Munakata Shun,
Fukamachi Ritsuko,
Okada Tomoo,
Takahashi Shigeru,
Takahashi Shori,
Sato Naoyuki,
Nakayama Tomohiro
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12501
Subject(s) - medicine , ileum , mutation , diarrhea , in utero , chloride channel , genetics , microbiology and biotechnology , biology , gene , fetus , pregnancy
Congenital chloride diarrhea ( CCD ) beginning in utero is a rare autosomal recessive inherited disorder characterized by impairment of Cl − /HCO 3 − exchange in an otherwise normal distal ileum and colon. Life‐long secretory diarrhea is caused by mutations in solute carrier family 26, member 3 , ( SLC26A3 ), which disrupt epithelial Cl − /HCO 3 − transport in the ileum and colon. Although 55 mutations in SLC26A3 have been identified throughout the world, few J apanese cases have been confirmed on genetic analysis. We report the successful treatment of a J apanese neonate with CCD caused by SLC26A3 mutation.