Autoimmune polyglandular syndrome type I. Features of clinical manifestations, difficulties in diagnosis and methods of correction
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 cert...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
State Budget Educational Institute of Higher Professional Education, Rostov State Medical University, Ministry Health of Russian Federation
2021-12-01
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| Series: | Медицинский вестник Юга России |
| Subjects: | |
| Online Access: | https://www.medicalherald.ru/jour/article/view/1440 |
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| 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. 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. |
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| ISSN: | 2219-8075 2618-7876 |