title: Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation.
abstract: Congenital chloride diarrhea (CCD) beginning in utero is a rare autosomal recessive inherited disorder characterized by impairment of Cl(-) /HCO3 (-) 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(-) /HCO3 (-) transport in the ileum and colon. Although 55 mutations in SLC26A3 have been identified throughout the world, few Japanese cases have been confirmed on genetic analysis. We report the successful treatment of a Japanese neonate with CCD caused by SLC26A3 mutation.
authors.affiliation: Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Fuwa
authors.forename: Shigeharu
authors.initials: S
authors.lastname: Hosono
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Nagano
authors.forename: Shun
authors.initials: S
authors.lastname: Munakata
authors.forename: Ritsuko
authors.initials: R
authors.lastname: Fukamachi
authors.forename: Tomoo
authors.initials: T
authors.lastname: Okada
authors.forename: Shigeru
authors.initials: S
authors.lastname: Takahashi
authors.forename: Shori
authors.initials: S
authors.lastname: Takahashi
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Sato
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Nakayama
mesh_terms: D000328:Adult; D027963:Chloride-Bicarbonate Antiporters / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000076988:Sulfate Transporters; D014157:Transcription Factors
chemical_list: D027963:Chloride-Bicarbonate Antiporters; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters; D014157:Transcription Factors; D004247:DNA
keywords: SLC26A3 mutation; butyrate; congenital chloride diarrhea; proton pump inhibitor