Abstract
Autoimmune polyglandular syndrome (APG) type I is an orphan disease with autosomal recessive inheritance caused by mutations in the autoimmune regulator gene (AIRE); the disease onset typically occurs in childhood. The disease is characterized by a wide variety of clinical manifestations with a certain stage in the manifestation of individual symptoms. The rare occurrence of this pathology determines its late diagnosis, which can lead to the decompensated life-threatening conditions and an unfavorable outcome. Widely informing pediatric specialists will contribute to the development of a diagnostic algorithm for timely verifying the disease from the moment its first clinical manifestations appear, and will improve the quality and life expectancy of the patients.
Highlights
Autoimmune polyglandular syndrome (APG) type I is an orphan disease with autosomal recessive inheritance caused by mutations in the autoimmune regulator gene (AIRE); the disease onset typically occurs in childhood
The disease is characterized by a wide variety of clinical manifestations with a certain stage in the manifestation of individual symptoms
Informing pediatric specialists will contribute to the development of a diagnostic algorithm for timely verifying the disease from the moment its first clinical manifestations appear, and will improve the quality and life expectancy of the patients
Summary
Autoimmune polyglandular syndrome (APG) type I is an orphan disease with autosomal recessive inheritance caused by mutations in the autoimmune regulator gene (AIRE); the disease onset typically occurs in childhood. Полигландулярный синдром 1 типа (синдром Уайтекера или кандидополиэндокринный синдром, ювенильная, юношеская полиэндокринопатия) представляет собой моногенное заболевание с аутосомно-рецессивным типом наследования, возникающее вследствие мутации гена AIRE, кодирующего белок AutoImmune Regulator, с манифестацией в детском возрасте и характеризующееся наличием классической триады заболеваний — первичного хронического кандидоза, первичного гипопаратиреоза и первичной надпочечниковой недостаточности [1,2].
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