AI Summary & Key Takeaways
AI InsightIn this paper we presented two sisters with APECED syndrome who were diagnosed through clinical findings where the diagnosis was proved by molecular genetic testing in index case
📌 3 Key Takeaways
Abstract
Two Sisters With Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator (AIRE) gene. The classic triad is composed by mucocutaneous candidiasis, primary hypoparathyroidism and autoimmune adrenal failure. The clinical diagnosis is based on the presence of at least two of the three major components of the disease. Very few patients with APECED syndrome were reported from Turkey and the diagnosis based on clinical findings by most of them. In this paper we presented two sisters with APECED syndrome who were diagnosed through clinical findings where the diagnosis was proved by molecular genetic testing in index case
Özet
Otoimmün poliendokrinopati-kandidiazis-ektodermal distrofi (APECED) sendromu birden fazla organın etkilendiği, otoimmün regülatuar (AIRE) gen mutasyonlarının neden olduğu otozomal resesif bir hastalıktır. Klasik olarak kronik mukokutanöz kandidiyazis, primer hipoparatiroidizm ve otoimmün adrenal yetmezlikten oluşan üç başlıca bileşeninden ikisinin varlığı ile tanımlanır. Türkiye'den kısıtlı sayıda APECED sendromlu olgu bildirilmiş olup bunların çoğunluğu klinik veriler ile tanı almışlardır. Bu yazıda, indeks olguda moleküler genetik çalışma ile kanıtlanmış ve klinik bulguları ile APECED sendromu tanısı almış olan iki kız kardeş sunulmuştur