Psödohipoparatiroidi Tip 1A: Olgu Sunumu

Year 2017, Volume: 44 Issue: 2, 213 - 217, 07.06.2017

Mehmet Güven , Zafer Pekkolay Hikmet Soylu Belma Özlem Tural Balsak Alpaslan Kemal Tuzcu

https://doi.org/10.5798/dicletip.319782

https://izlik.org/JA54FJ53KG

Abstract

Psödohipoparatiroidizm (PHPT); hedef organın parathormona (PTH) yanıt vermediği kalıtımsal bir bozukluktur.
Biyokimyasal olarak; hipokalsemi, hiperfosfatemi ve PTH yüksekliği ile karakterizedir. PTH uygulamasına verilen
yanıt belirgin derecede düşüktür. Tip 1A, biyokimyasal özelliklere ek olarak Albright herediter osteodistrofisi (AHO)
olarak bilinen karakteristik somatik bir fenotipe de sahiptir. Bu fenotipin, kısa boy, yuvarlak yüz, frontal bombelik,
brakidaktili, obezite özelikleri bulunmaktadır. Burada biz, hipokalsemi ve Albright herediter osteodistrofisi tanısı
koyduğumuz; kalsiyum, aktif D vitamini ile tedavi ettiğimiz olgumuzu sunduk.

Keywords

Psödohipoparatiroidi , hipokalsemi

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