Psödohipoparatiroidi Tip 2: Olgu Sunumu

Year 2021, , 185 - 188, 30.06.2021

Özlem Güleç Şen Emre Kaçar Tolga Altuğ Şen

https://doi.org/10.15321/GenelTipDer.2021.312

Abstract

Psödohipoparatiroidi, parathormona karşı hedef organ düzeyinde cevapsızlık nedeniyle hipokalsemi ve hiperfosfatemi gelişmesiyle karakterize bir bozukluktur. Oldukça az görülen bu durumun iki tipi vardır, Tip 1 üç alt gruba ayrılmıştır. Psödohipoparatiroidi Tip 1A, diğer adıyla Albright’ın herediter osteodistrofisi klinikte karakteristik yuvarlak yüz görünümü, frontal bombelik, kısa boy, obezite, brakidaktili ve mental retardasyonu olan hastalarda kolaylıkla tanınabilirken, Tip 1B ve Tip 1C’de normal fenotipik özellikler ve normal zeka vardır. Tip 1’de paratiroid direnci ile birlikte TSH ve gonadotropin direnci de tanımlanmış hastalar bulunmakta iken, Tip 2’de sadece paratiroid hormon direnci tanımlanmıştır. Ellerde, ayaklarda kasılma şikayeti ile Kalp-Damar Cerrahisi polikliniğine başvuran 12 yaşındaki kız hastaya oldukça nadir bir durum olan psödohipoparatiroidi Tip 2 tanısı koyarak; kalsiyum, D vitamini ile başarılı bir şekilde tedavi etmemiz nedeniyle olgu sunumu yaptık.

Keywords

Hipokalsemi, hiperfosfatemi, hiperparatiroidi

Pseudohypoparathyroidism Type 2: Case Report

Abstract

Pseudohypoparathyroidism is a disorder characterized by hypocalcemia and hyperphosphatemia due to unresponsiveness of target organs to the parathormone. In this quite rare condition two types of disease exists and type 1 have 3 subtypes. Pseudohypoparathyroidism type 1A is known as Albright’s hereditary osteodystrophy, is clinically recognizable in patients with characteristic round face, frontal camber, short stature, obesity, brachydactyly and mental retardation, in type 1B and in type 1C, normal phenotypic features and normal intelligence were present. With parathyroid hormone resistance, TSH and gonadotropin resistance has also been identified simultaneously in type 1 patients, while in type 2 patients only parathyroid hormone resistance has been defined. Because of it was a very rare condition, we present a twelve years old girl patient admitted to Cardiovascular Surgery outpatient polyclinic with the complaint of spasm in hands and feet, diagnosed as pseudohypoparathyroidism type 2 who was treated successfully by calcium, vitamin D.

Keywords

Hypocalcemia, hyperphosphatemia, hyperparathyroidy

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