Department of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, Croatia.
Department of Pediatrics, University of Split School of Medicine, Soltanska 2, 21000 Split, Croatia.
Genes (Basel). 2022 Mar 22;13(4):558. doi: 10.3390/genes13040558.
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator () gene characterized by complex phenotypic characteristics discovered over years of follow-up.
7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for R257X mutations.
This study group had a mean current age of 25.3 years (age range from 5.4 to 40.2 years), while the mean age at the onset of the disease was 6.5 years (age range from 0.7 to 9.2 years) and with a mean follow-up period of 17.8 years. The overall prevalence of APECED syndrome is estimated to be 1 in 75,000. The most common initial manifestation of the disease was onychodystrophy, while the first major component of APECED syndrome was chronic mucocutaneous candidiasis.
APECED is a ''multi-faced'' disease based on the very unpredictable and inconsistent onset of major components. Furthermore, based on our results, we suggest that onychodystrophy could be included as a warning sign of APECED syndrome.
自身免疫性多内分泌腺病念珠菌病外胚层营养不良（APECED）是一种罕见的单基因常染色体隐性遗传病，由自身免疫调节因子（）基因突变引起，其特征是经过多年的随访发现了复杂的表型特征。
在过去的 37 年中，我们在克罗地亚南部招募了 7 名连续病例进行本病例系列研究。所有患者均筛查 R257X 突变。
本研究组的当前平均年龄为 25.3 岁（年龄范围为 5.4 至 40.2 岁），而疾病的平均发病年龄为 6.5 岁（年龄范围为 0.7 至 9.2 岁），平均随访时间为 17.8 年。APECED 综合征的总体患病率估计为 1/75000。疾病的最常见初始表现为甲营养不良，而 APECED 综合征的第一个主要组成部分是慢性黏膜皮肤念珠菌病。
APECED 是一种“多面”疾病，主要表现为发病非常不可预测且不一致。此外，根据我们的结果，我们建议甲营养不良可作为 APECED 综合征的预警信号。
