Details

Autor(en) / Beteiligte

• Dechant, Markus-Johann
• Wedenoja, Satu
• Höglund, Pia
• Prange-Schmidt, Susanne
• Zimmer, Klaus-Peter
• Heckmann, Matthias

Titel

Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation

Ist Teil von

• Acta Paediatrica, 2012-06, Vol.101 (6), p.e256-e259

Ort / Verlag

Oxford, UK: Blackwell Publishing Ltd

Erscheinungsjahr

2012

Quelle

Wiley-Blackwell Journals

Beschreibungen/Notizen

• 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. Conclusion:  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.