title: Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation.
abstract: Congenital chloride diarrhoea (CLD) is a rare autosomal recessive disease with chronic secretory diarrhoea and a need for lifelong salt replacement therapy. We describe a male newborn of consanguineous parents with CLD. Postnatally, frequent watery diarrhoea and electrolyte disturbances were noted from the day 8 of his life. At molecular level, a homozygous mutation was detected in the solute carrier family 26 member A3 gene (SLC26A3), confirming the clinical diagnosis of CLD.
  
  
  CONCLUSIONS
  The relatively late onset of persistent clinical and laboratory signs may demonstrate a new clinical course of CLD. These findings support the need of a tight follow-up and monitoring if such a diagnosis is considered.
authors.affiliation: Department of General Pediatrics and Neonatology, University Children's Hospital, Giessen, Germany. markus.dechant@uniklinik-freiburg.de
authors.forename: Markus-Johann
authors.initials: MJ
authors.lastname: Dechant
authors.forename: Satu
authors.initials: S
authors.lastname: Wedenoja
authors.forename: Pia
authors.initials: P
authors.lastname: Höglund
authors.forename: Susanne
authors.initials: S
authors.lastname: Prange-Schmidt
authors.forename: Klaus-Peter
authors.initials: KP
authors.lastname: Zimmer
authors.forename: Matthias
authors.initials: M
authors.lastname: Heckmann
mesh_terms: D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation