A Case of Autoimmune Polyglandular Syndrome Type 1 Presenting with Hypocalcemia

Year 2019, , 109 - 114, 30.04.2019

Özlem Korkmaz , Samim Özen , Damla Gökşen Şükran Darcan

https://doi.org/10.24938/kutfd.426463

Abstract

Autoimmune
polyglandular syndrome type 1 is a very rare monogenic autosomal recessive
disease, defined by the presence of at least two of three major diseases:
Chronic mucocutanenous candidiasis, hypoparathyroidism and autoimmune adrenal
failure. The range of these secondary autoimmune disorder is broad and
variable. In this paper, we presented a case of autoimmune polyglandular
syndrome type 1 whose initial diagnosis was hypoparathyroidism presenting with
hypocalcemia. A 14 year old girl presented with hypocalcemia and hypoparathyroidism at
the age of 8, and chronic
mucocutanenous candidiasis, thyroiditis and hypergonadotropic hypogonadism
was detected at follow-up.
Autoimmune hypoparathyroidism may a first sign of OPS type 1. Therefore, young
patients with hypocalcemia should be followed on regüler basis for related other autoimmune disease that may occur
over time.

Keywords

hypoparathyoidism, autoimmune thyroiditis, Autoimmune polyglandular syndrome type 1, autoimmune thyroiditis

HİPOKALSEMİ İLE BAŞVURAN BİR OTOİMMUN POLİGLANDÜLER SENDROM TİP 1 OLGUSU

Abstract

Otoimmun
poliglandüler sendrom tip 1 (OPS tip 1) oldukça nadir görülen monogenik,
otozomal resesif geçişli bir hastalıktır. Kronik mukokutanöz kandidiyazis,
hipoparatiroidizm ve otoimmun adrenal yetmezlikten oluşan major bulguların
ikisinin varlığı ile tanımlanır. Sekonder otoimmun bozukluklar farklı
şekillerde ve geniş bir spektrumda ortaya çıkabilir. Bu yazıda ilk olarak
başvurusunda hipokalsemi saptanması üzerine hipoparatiroidizm tanısı alan ve
izleminde otoimmun poliglandüler sendrom tip 1 olarak değerlendirilen bir olgu
sunulmuştur. 14 yaşında kız hastada ilk olarak 8 yaşında iken hipokalsemi ve
hipoparatiroidi tespit edilmiş, izlemde kronik mukokutanoz kandidiazis,
tiroidit ve hipergonadotropik hipogonadizm saptanmıştır. Otoimmün hipoparatiroidizm OPS tip
1’in başlangıç bulgusu olabilir. Bu nedenle erken yaşlarda hipokalsemi ile
başvuran olgular zaman içerisinde ortaya çıkabilecek eşlik eden diğer
otoimmun hastalıklar açısından düzenli aralıklarla kontrol edilmelidir.

Keywords

hipoparatiroidi, otoimmun tiroidit, Otoimmun poliglandüler sendrom tip1, otoimmun tiroidit

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