Autoimmune polyendocrine syndrome type 1: case report and review of literature

作者：Weiler Fernanda Guimaraes^*; Dias da Silva Magnus R; Lazaretti Castro Marise

来源：Arquivos Brasileiros de Endocrinologia e Metabologia, 2012, 56(1): 54-66.

DOI：10.1590/s0004-27302012000100009

Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for self-tolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome. Arq Bras Endocnnol Metab. 2012;56(1):54-66

• 出版日期2012-2