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
    Image of study
    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.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 1000+ results

      community Alopecia Areata Question

      in Treatment  2 upvotes 3 years ago
      A user with alopecia totalis, borderline universalis, seeks advice on getting into a Xeljanz trial or appealing insurance for coverage. They experienced significant hair regrowth but are now seeing hair loss again and want to try Xeljanz.

      community mbp alopecia areata or vitamin deficiency

      in Chat 4 months ago
      A 19-year-old male has been using topical finasteride and minoxidil for 8 months with no progress and is considering seeking a second opinion due to potential misdiagnosis. The discussion revolves around whether the hair loss is due to male pattern baldness, alopecia areata, or a vitamin deficiency.

      community Androgenic alopecia exclusively on the vertex of the scalp

      in Chat  6 upvotes 6 months ago
      A user experienced androgenic alopecia starting at the vertex without frontal hairline recession and is seeking information on this pattern. Another user noted that vertex or diffuse hair loss is common among men.

      community Fibrosing alopecia in a pattern distribution

      in Research/Science  14 upvotes 7 months ago
      A user has been experiencing hair loss for 4 years, with treatments like minoxidil, finasteride, and various supplements proving ineffective. They were diagnosed with fibrosing alopecia in a pattern distribution, a condition that may require a combination of anti-inflammatory and hair growth treatments.

      community Androgenetic alopecia is a skin disease: DHT-mediated skin disorders

      in Research/Science  65 upvotes 1 year ago
      Dihydrotestosterone (DHT) impacts various skin conditions, including Androgenetic alopecia and seborrheic dermatitis, by causing overactivity in sebaceous glands. Topical medications Tacrolimus and Clobetasol can reduce these inflammatory conditions, and treatments like RU58841, Minoxidil, and Finasteride may also be beneficial.

    Related Research

    1 / 1 results