Congenital chloride diarrhea misdiagnosed as Bartter syndrome.
Turk J Gastroenterol
; 22(3): 321-3, 2011 Jun.
Article
em En
| MEDLINE
| ID: mdl-21805424
ABSTRACT
Congenital chloride diarrhea is the most frequent secretory-type diarrhea during the infantile period in the presence of normal intestinal mucosa. The disease has an autosomal recessive inheritance. Although approximately half of the reported cases to date are from Finland, a much higher incidence has been reported among Arabic people. The defective gene is SLC26A3, which encodes a Na-independent CL/HCO3 exchanger that is expressed primarily in the apical brush border membrane of ileal enterocytes and colonic epithelium. The disease is characterized by dehydration and hypochloremic metabolic alkalosis. Bartter syndrome, cystic fibrosis and pyloric stenosis also lead to similar electrolyte disturbances in the early neonatal period. The diagnosis of congenital chloride diarrhea can be confirmed by measuring the fecal concentration of Cl, which always exceeds 90 mmol/L in patients with normal water and electrolyte balance. Here, we report a patient with congenital chloride diarrhea misdiagnosed as Bartter syndrome until 20 months of age.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Bartter
/
Diarreia
/
Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Turk J Gastroenterol
Assunto da revista:
GASTROENTEROLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Turquia