Author/Authors
ESEN, İhsan Fırat Üniversitesi - Tıp Fakültesi - Çocuk Endokrinolojisi Bilim Dalı, Türkiye , KARA, Aslıhan Fırat Üniversitesi - Tıp Fakültesi - Çocuk Nefrolojisi Bilim Dalı, Türkiye , CEYLANER, Serdar İntergen Genetik Merkezi, Türkiye
Title Of Article
Two Sisters With Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome
شماره ركورد
17612
Abstract
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.
From Page
225
NaturalLanguageKeyword
APECED syndrome , autoimmune polyendocrinopathy , candidiasis , ectodermal dystrophy syndrome , child
JournalTitle
Fırat Medical Journal
To Page
228
JournalTitle
Fırat Medical Journal
Link To Document