Çocukluk Çağında Hiperkalsemi Bulgusuyla Başvuran Tip 1 Otoimmün Poliglandüler Sendromlu Bir Olgu

Otoimmün poliendokrinopati-kandidiazis-ektodermal distrofi, tip 1 otoimmün poliglandüler yetersizlik sendromu olarak bilinmektedir. Tip 1 otoimmün poliglandüler yetersizlik, özellikle çocukluk çağında ortaya çıkmaktadır. Otozomal resesif geçişli bir hastalıktır. ileri yaşlara doğru gonadal yetersizlik, alopesi, vitiligo, kronik aktif hepatit ve malabsorbsiyon tespit edilebilir. On beş yaşında kız hastanın özgeçmişinden, ilk olarak kronik mukokütanöz kandidiazis tanısı aldığı, sonrasında hipokalsemi bulguları saptandığı, kalsiyum ve D vitamini tedavisine başlanıldığı, uzun süre hipokalsemi tedavisi sonucu hiperkalsemi geliştiği ve bölümüze yönlendirildiği öğrenildi. Hastaya mevcut klinik ve laboratuvar bulgularıyla adrenal yetersizlik tanısı konuldu ve hiperkalsemi gelişme nedeni bu duruma bağlandı. Olguya, kronik mukokütanöz kandidazis, hipoparatiroidi ve son olarak adrenal yetersizliğin bir arada görülmesi nedeniyle tip 1 otoimmün poliglandüler sendromu tanısı konuldu. Sonuç olarak herhangi bir otoimmün endokrin hastalığı saptananlar, poliglandüler endokrin yetersizlik ve endokrin dışı organlara ait hastalık riski açısından yakın takip edilmelidir.

(A case of hypercalsemia presented with autoimmune polyglandular syndrome type 1 in childhood)

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is also known as autoimmune polyglandular syndrome type I (APS-I). APS-I usually occurs in childhood and is an autosomal recessive disorder. Other associated diseases that developed in time included gonadal insufficiency, alopecia, vitiligo, chronic urticaria, chronic active hepatitis and malabsorption. In patients history; it was learned first diagnosed with syndrome of chronic mucocutaneous candidiasis after that symptoms of hypocalcemia detected so calcium and vitamin D treatment started. It was learned treatment of patient with hypocalcemia for a long time afterwards developed hypercalcemia so she directed by our department. Current clinical and laboratary findings were diagnosed with adrenal insufficiency and development of hypercalcemia due to this situation. Syndrome of chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency seen together in this situation thats way our diagnosed was APS. In conclusion, patients with autoimmune endocrine disease should be followed on a regular basis.

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