Konjenital Klor Diyaresi

Abstract

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.

Keywords

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

Congenital Chloride Diarrhea

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

Keywords

• Childhood, Diarrhea, Chlorine, Congenital, Chronic

References

1. Iijima S, Ohzeki T. A case of congenital chloride diarrhea: Information obtained through long-term follow-up with reduced electrolyte substitution. Clin J Gastroenterol 2008;1:28-31.
2. Holmberg C. Congenital chloride diarrhoea. Clinics in Gastroenter 1986;15:583-602.
3. Hihnala S, Höglund P, Lammi L, Kokkonen J, Örmala T, et all. Long- term clinical outcome in patients with congenital chloride diarrhea. J Pediatr Gastroenterol Nutr 2006;42:369-75.
4. Makela S, Kere J, Holmberg C, Höglund P. SLC26A3 mutations in congenital chloride diarrhea. Human mutat 2002;20:425-38.
5. Kere J, Lohi H, Höglund P. Genetic Disorder of Membrane Transport III. Congenital chloride diarrhea. Am J Physiol 1999;276:7-13.
6. Tsukimori K, Nakanami N, Wake N, Masumoto K, Taguchi T. Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. J Ultrasound Med 2007;26:1805-7.
7. Ozen H, Tanrıöğer N. Congenital chloride diarrhea in a Turkish boy. Turk J Pediatr 1996;38:235-8.
8. Shanthala CC, Maiya PP, Benakappa N, Sajeev BK. Congenital chloride diarrhea. Indian J Pediatr 1996;63:254-6.

9. Höglund P, Holmberg C, Sherman P, Kere J. Distinc outcomes of chloride diarrhoe in two siblings with identical genetic background of the disease: Implications for early diagnosis and treatment. Gut 2001;48:724-7.
10. Canani RB, Terrin G, Cırıllo P, Castaldo G, Salvatore F, Cardillo G, et al. Butyrate as an effective treatment of congenital chloride diarrhea. Gastroenterology 2004;127:630-4.
11. Wedenoja S, Holmberg C, Höglund P. Oral butyrate in treatment of congenital chloride diarrhea. Am J Gastroenterol 2008;103:252-4.