Öz
Bartter sendromu, otozomal resesif geçişli, tuz kaybettiren nadir bir renal tübüler hastalıktır. Düşük potasyum ve klorür seviyeleri, metabolik alkaloz ve düşük/normal kan basıncı gibi çeşitli elektrolit anormallikleri ile tanımlanır. Akraba anne-babadan 28 haftalık prematüre bir bebekte şiddetli hipokalemi, hipokloremik metabolik alkaloz, poliüri ve böbrek yetmezliği ile başvuran bir neonatal Bartter sendromu olgusunu bildirdik. Oral indometasin ve potasyum takviyeleri ile başarılı bir şekilde tedavi edildi. Genetik testler, BSND genindeki mutasyonlarla birlikte Bartter sendromu Tip 4a ile sonuçlandı.
Anahtar Kelimeler: Bartter sendromu, BSND geni, preterm, yenidoğan
Kaynakça
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