Nihal Yıldız, Erkan Doğan, Eylem Sevinç, Mehmet Akif Göktaş, Sadrettin Ekmen

Türk yenidoğan ve konjenital klorür diyareli kardeşinde SLC26A3 mutasyonu

Konjenital klor diyaresi bebeklerde artmış klor atılımının olduğu ciddi ishalin ender bir nedenidir. SLC26A3 genindeki mutasyonlar konjenital klor diyaresine neden olur. Belirtiler genellikle yenidoğan döneminde başlar ve elektrolit dengesizliği, metabolik alkaloz ve gelişme geriliği ile belirgin olur. Konjenital klor diyaresi tanısı dışkıda artmış klor (90 mmol/L) atılımının saptanmasına dayanır. Kardeşinde de aynı hastalık bulunan konjenital klor diyareli Türk yenidoğanı bildiriyoruz. Yenidoğan sezaryen yolla doğdu. Doğumdan hemen sonra ishal, kusma ve tartı kaybı başladı. Konjenital klor diyaresi tanısı tipik klinik belirti ve dışkıda artmış klor konsantrasyonuna dayanarak kondu ve genetik analizle doğrulandı. Tuz desteği ve lansaprazol ile tedavi edildi. Hastalık otozomal çekinik kalıtım gösterdiğinden, erken tanıda aile öyküsünün olması önemli bir rol oynayabilir.

SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea

Congenital chloride diarrhea is a rare cause of severe infantile diarrhea with excessive chloride excretion. Mutations in the SLC26A3 genecause congenital chloride diarrhea. It generally becomes apparent in theneonatal period and is characterized by electrolyte imbalances, metabolicalkalosis, and failure to thrive. The diagnosis of congenital chloride diarrhea is based on detecting excessive chloride in the stool (90 mmol/L). Wereport a Turkish neonate with congenital chloride diarrhea whose siblinghad the same disease. The newborn was born by cesarean delivery. Diarrhea, vomiting, and weight loss started soon after birth. She was diagnosed as having congenital chloride diarrhea based on its typical clinicalsigns and a high concentration of stool chloride and was confirmed bygenetic analysis. She was treated by means of salt supplementations andlansoprazole. Family history may play an important role in the early diagnosis because the disease is inherited autosomal recessively

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