Erken Başlangıçlı Gitelman Sendromu Olgusu

Yıl 2018, Cilt: 12 Sayı: 4, 293 - 295, 30.12.2018

Bahriye Atmış

https://doi.org/10.12956/tjpd.2018.368

Cited By: 1

https://izlik.org/JA73YE92CZ

Öz

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.

Anahtar Kelimeler

Çocukluk çağı , Gitelman sendromu

Kaynakça

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