Abstract

Gitelman sendromu (GS), hipokalemik metabolik alkaloz ile birlikte hipomagnezemi ve hipokalsiüri ile seyreden ve erişkinde

en sık saptanan herediter tübülopatidir. Gitelman sendromu distal kıvrımlı tübülde tiazid duyarlı Na-Cl kotransport

kanalını kodlayan SLC12A3 geninde mutasyon sonucu ortaya çıkar. Genellikle erişkin yaşta tespit edilmesine karşın

çoğu altı yaşından sonra ortaya çıkar. Gitelman sendromunun klinik belirti vererek 6 yaşından önce tanı alması nadirdir.

Biz beş yaşında tetani ile başvuran ve Gitelman Sendromu tanısı koyduğumuz bir hastamızı literatürü gözden geçirerek

sunduk.

Keywords: Çocukluk çağı, Gitelman sendromu

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Copyright and license

How to cite

1.
Atmış B. Erken Başlangıçlı Gitelman Sendromu Olgusu. Turk J Pediatr Dis [Internet]. 2018 Dec. 30 [cited 2025 May 24];12(4):293-5. Available from: https://turkjpediatrdis.org/article/view/502