Yukina Marina Yuryevna, Larina Anna Aleksandrovna, Vasilyev Evgeny Vitalyevich, Troshina Ekaterina Anatolyevna, Dimitrova Diana Arshaluysovna
Department of Therapeutic Endocrinology, Endocrinology Research Centre, Moscow, Russia.
Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Centre, Moscow, Russian.
Clin Med Insights Endocrinol Diabetes. 2021 Apr 19;14:11795514211009796. doi: 10.1177/11795514211009796. eCollection 2021.
Autoimmune polyendocrine syndromes (APS) are a heterogeneous group of diseases characterized by the presence of autoimmune dysfunction of 2 or more endocrine glands and other non-endocrine organs. The components of the syndrome can manifest throughout life: in childhood-APS type 1 (the juvenile type) and in adulthood-APS type 2, 3, and 4 (the adult types). Adult types of APS are more common in clinical practice. It is a polygenic disease associated with abnormalities in genes encoding key regulatory proteins of the major histocompatibility complex (MHC). The search of for candidate genes responsible for mutations in adult APS is continuing. Genetic predisposition is insufficient for the manifestation of the APS of adults, since the penetrance of the disease, even among monozygotic twins, does not approach 100% (30-70%). The article presents the case of isolated Addison's disease and APS type 2 in monozygotic twins with a revealed compound heterozygosity in the candidate gene VTCN1.
自身免疫性多内分泌综合征（APS）是一组异质性疾病，其特征是存在两个或更多内分泌腺以及其他非内分泌器官的自身免疫功能障碍。该综合征的组成部分可在一生中表现出来：在儿童期为APS 1型（青少年型），在成年期为APS 2型、3型和4型（成人型）。成人型APS在临床实践中更为常见。它是一种多基因疾病，与主要组织相容性复合体（MHC）关键调节蛋白编码基因的异常有关。对导致成人APS突变的候选基因的寻找仍在继续。遗传易感性不足以导致成人APS的表现，因为即使在同卵双胞胎中，该疾病的外显率也未达到100%（30%-70%）。本文介绍了一对同卵双胞胎中孤立性艾迪生病和APS 2型的病例，其候选基因VTCN1中存在复合杂合性。
