Autoimmune polyendocrinopathy syndrome type 1. A case report

作者：El Arbi S^*; Kohlschmidt N; Demant A; Horneff G

来源：Monatsschrift Kinderheilkunde, 2013, 161(4): 340-+.

DOI：10.1007/s00112-013-2874-y

• APECED
• Autoimmune polyendocrinopathy syndrome type 1
• Chronic mucocutaneous candidiasis
• AIRE gene
• Mutation

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a genetic disease that occurs in childhood or early adolescence and is characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune-related adrenal insufficiency caused by mutations in the AIRE gene (21q22.3). We report the case of a 14-year-old girl, who initially experienced a life-threatening Addison crisis. Without having been correctly diagnosed, corticosteroids at higher dosage were prescribed with the development of osteoporosis with vertebral fractures and kyphosis. The overall picture consisting of nail and skin mycosis, alopecia due to ectodermal dystrophy, and multiple autoimmune endocrinopathies, clinically leading to hypocortisolism and hypoparathyroidism resulted into the correct diagnosis. The diagnosis was confirmed by identification of a typical mutation. The patient received the hormonal substitution, activated vitamin D and calcium together with external and systemic antifungal agents.

• 出版日期2013-4