Autoimmune polyglandular syndrome type 1

Autor: T. A. Kiseleva, F. V. Valeeva, D. L. Ekimovskaya, M. A. Makarov, R. T. Habibullina
Jazyk: English<br />Russian
Rok vydání: 2022
Předmět:
Zdroj: Медицинский вестник Юга России, Vol 13, Iss 2, Pp 168-171 (2022)
Druh dokumentu: article
ISSN: 2219-8075
2618-7876
DOI: 10.21886/2219-8075-2022-13-2-168-171
Popis: Type 1 autoimmune polyglandular syndrome (APS1) is a rare disease, with an unknown prevalence in the Russian population. Due to the low awareness of doctors, it takes more time to make the accurate diagnosis and provide correct medical care. This article describes classical features of APS1 and a clinical case of a patient, who did not have one of the most common first manifestation of the disease - mucocutaneous candidiasis. Hypocalcemia was detected much later than the first clinical manifestations in the form of generalized seizures occurred. Patient also suffers from tapetoretinal abiotrophy, he completely lost vision in childhood which made it difficult for the doctor and patient to interact in the treatment of the disease.
Databáze: Directory of Open Access Journals