Konjenital Klor Diyaresi

Öz

Konjenital klor diyaresi nadir, otozomal resesif SLC26A3 genindeki mutasyonların neden olduğu bir hastalıktır. Primer defekt aktif klor absorpsiyonu ve bikarbonat sekresyonunun bozulmasına neden olan, distal ileum ve kolonda Cl-/HCO-3 değişim mekanizmasındadır. Sulu, kronik ishal ve yüksek dışkı klor içeriği, hiponatremi ve hipokloremik metabolik alkaloz ile karakterizedir. Yüksek dışkı klor konsantrasyonu ile konjenital klor diyaresi tanısı alan 12 aylık erkek hasta sunulmuştur.

Anahtar Kelimeler

• Çocukluk çağı, Diyare, İshal, Klor, Konjenital, Kronik

Congenital Chloride Diarrhea

Öz

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

Anahtar Kelimeler

• Childhood, Diarrhea, Chlorine, Congenital, Chronic

Kaynakça

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