A Case of Autoimmune Polyglandular Syndrome Type 1 Presenting with Hypocalcemia

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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