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Konjenital Klor Diyaresi
2013
Journal:  
Türkiye Çocuk Hastalıkları Dergisi
Author:  
Abstract:

Congenital chloride diarrhea is a rare, autosomal recessive disorder caused by mutations in the SLC26A3 gene. The primary defect is in the Cl-/HCO3 exchange mechanism of the distal ileum and colon, causing impaired active chloride absorption and bicarbonate secretion. It is characterized by chronic, watery diarrhea with a high fecal chloride concentration, hyponatremia, and hypochloremic metabolic alkalosis. A 12-month-old boy with congenital chloride diarrhea diagnosed by high fecal chloride concentration is presented

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Türkiye Çocuk Hastalıkları Dergisi

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 1.066
Cite : 891
2023 Impact : 0.012
Details
Türkiye Çocuk Hastalıkları Dergisi