Nadir bir hipokalsemi nedeni: Psödohipoparatiroidizm

Year 2022, , 463 - 465, 31.03.2022

Baris Karagün , Gamze Akkuş , Mehtap Evran Olgun

https://doi.org/10.17826/cumj.997846

Abstract

Psödohipoparatiroidizm, parathormon direnci ile ilişkili, nadir görülen kalıtsal bir metabolik bozukluktur. Serum kalsiyum düşükken yüksek fosfat düzeyi ve parathormon direncini düşündüren yüksek parathormon seviyeleri, bozukluğun biyokimyasal karakteristik özellikleridir. Psödohipoparatiroidizm tip 1, tipik bir fenotip ile karakterize Albright'ın kalıtsal osteodistrofisi olarak bilinir. Bu sendrom brakidaktili, yuvarlak yüz, kısa boy, santral obezite ve değişken derecelerde mental retardasyon gibi çok sayıda klinik bulguyu kapsar. Burada biz hipokalsemi ve parathormon direncinin nadir bir nedeni olan psödohipoparatiroidi tanısı alan bir hastayı sunuyoruz.

Keywords

Albright herediter osteodistrofisi, Hipokalsemi, Parathormon direnci

A rare cause of hypocalcemia: Pseudohypoparathyroidism

Abstract

Pseudohypoparathyroidism is a rare inherited metabolic disorder that associated with parathormone resistance. Low serum calcium, high phosphates and raised parathormone levels suggesting parathormone resistance are biochemical characteristic features of disorder . Pseudohypoparathyroidism type 1 is known as Albright’s hereditary osteodystrophy that characterized by a typical phenotype. This syndrome encompasses multiple clinical findings such as brachydactyly, rounded face, short stature, central obesity, and variable degrees of mental retardation. Here, we present a patient with pseudohypoparathyroidism which is rare cause of hypocalcemia and parathormone resistance .

Keywords

Albright’s hereditary osteodystrophy, hypocalcemia, Parathormone resistance

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