Details

Autor(en) / Beteiligte

• Gürakan, Figen
• Baysoy, Gökhan
• Wedenoja, Satu
• Uslu, Nuray
• Ozen, Hasan
• Ozaltin, Fatih
• Höglund, Pia

Titel

Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability

Ist Teil von

• Turkish journal of pediatrics, 2011-03, Vol.53 (2), p.194-198

Ort / Verlag

Turkey: Hacettepe University Faculty of Medicine

Erscheinungsjahr

2011

Quelle

MEDLINE

Beschreibungen/Notizen

• Congenital chloride diarrhea (CLD) (OMIM #214700) is a rare, autosomal recessive disease that is characterized by increased chloride loss in stool. As a result of electrolyte loss, surviving patients might have some complications, one of them being mental retardation. Here, we present three new Turkish patients with new mutations in the SLC26A3 gene. Although the clinical picture of the patients might be similar, consequences of the disease and complications might differ greatly among patients. Pediatricians should be aware of CLD as a potentially fatal or disabling disease if untreated. History of polyhydramnios, watery diarrhea, failure to thrive, poor growth, soiling, metabolic alkalosis and hypokalemia/hypochloremia should be an alarming set of findings for the diagnosis. Salt substitution therapy started early in life prevents early complications, allows normal growth and development, and favors good long-term prognosis.