Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

    January 2010 in “ Hormone research in paediatrics ”
    Elizaveta Orlova, А. М. Букина, Э С Кузнецова, Maria Kareva, Ekaterina U. Zakharova, Valentina Peterkova, Ivan I. Dedov
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    TLDR Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
    The study on Autoimmune Polyglandular Syndrome Type 1 (APS-1) in Russian patients involved 46 patients from 42 families and identified 18 different clinical components, with the R257X mutation being the most common, present in 70% of alleles. The research highlighted significant phenotype variability and the challenges in early diagnosis, emphasizing the importance of genetic screening for accurate diagnosis. Hypoparathyroidism, chronic mucocutaneous candidiasis, and adrenal insufficiency were the most common manifestations, while alopecia was the most frequent minor component. The study also identified rare conditions like metaphyseal dysplasia and retinal pigment degeneration, and proposed the detection of anti-interferon autoantibodies as a promising diagnostic tool.
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