Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation
| Autor: | Susanne Prange-Schmidt, Pia Höglund, Satu Wedenoja, Markus-Johann Dechant, Klaus-Peter Zimmer, Matthias Heckmann |
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| Rok vydání: | 2012 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities 0303 health sciences Pediatrics medicine.medical_specialty biology business.industry Clinical course Late onset General Medicine Secretory diarrhoea Disease SLC26A3 respiratory tract diseases 3. Good health 03 medical and health sciences 0302 clinical medicine Molecular level Clinical diagnosis Pediatrics Perinatology and Child Health medicine biology.protein business Novel mutation 030217 neurology & neurosurgery 030304 developmental biology |
| Zdroj: | Acta Paediatrica. 101:e256-e259 |
| ISSN: | 0803-5253 |
| DOI: | 10.1111/j.1651-2227.2012.02610.x |
| Popis: | UNLABELLED 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. |
| Databáze: | OpenAIRE |
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