Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome.
Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome.
复制标题
DOI：
10.3389/fimmu.2017.00377
复制
发表时间：
2017
影响因子：
7.3
通讯作者：
Bingham CA
中科院分区：
文献类型：
--
作者：
Gutierrez MJ;Gilson J;Zacharias J;Ishmael F;Bingham CA
自身免疫性多内分泌病伴念珠菌病和外胚层营养不良（APECED）是一种罕见的由自身免疫调节（AIRE）基因突变引起的免疫失调疾病。受APECED影响的个体发展为临床综合征，其特征为外胚层异常、自身抗体产生和器官特异性自身免疫表现。炎症性关节炎通常不被描述为综合征的一部分，只有零星病例被报道。我们描述了一个学龄前女孩，她在4岁时表现为甲状旁腺功能减退、肝炎、间质性肺炎和慢性多发性关节炎，并被发现在AIRE基因中有两个复合杂合疾病相关突变。我们还对APECED患者炎症性关节炎的主要特征进行了文献回顾。我们的病例和回顾表明：(1)炎症性关节炎，虽然罕见，但可以是APECED的早期表现；(2)如果伴有粘膜皮肤念珠菌病、多器官特异性自身免疫表现、多内分泌病变（尤其是甲状旁腺功能减退或肾上腺功能衰竭）或外表皮营养不良，应考虑诊断APECED；(3)基因分型解释应考虑到该基因的14个外显子都有突变，复合杂合现象很常见，有时只发现一个或没有突变等位基因。
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator (AIRE) gene. Individuals affected with APECED develop a clinical syndrome characterized by ectodermal abnormalities, autoantibody production, and organ-specific autoimmune manifestations. Inflammatory arthritis is usually not described as a part of the syndrome, and only sporadic cases are reported. We describe the case of a preschool-age girl who presented with hypoparathyroidism, hepatitis, interstitial pneumonitis, and chronic polyarthritis at 4 years of age and was found to have two compound heterozygous disease-associated mutations in the AIRE gene. We also conducted a literature review of the main characteristics of inflammatory arthritis in APECED patients. Our case and review demonstrate that (1) inflammatory arthritis, although rare, can be an early manifestation of APECED; (2) the diagnosis of APECED should be considered if mucocutaneous candidiasis, multiple organ-specific autoimmune manifestations, polyendocrinopathy, especially hypoparathyroidism or adrenal failure, or ectodermal dystrophy accompany joint symptoms; and (3) genotyping interpretation should take into account that mutations are found in the 14 exons of the gene, compound heterozygosity is common, and in some cases, only one or no mutated alleles are found.