Téma:  Case Studies

Polyglandular autoimmune syndrome type i – where are the patients?

Mikuláš Pura, Anna Očkajáková, Ján Benko, Helena Imreová, Lucia Libiaková, Peter Vaňuga

The authors present case reports of the first Slovak patients with autoimmune polyglandular syndrome type I (APS I) confirmed by positive AIRE gene analysis. In 54-year old female patient with Addison disease, hypoparathyroidism and dental enamel dysplasia, were identified mutations c.274C>T (R92W) and c.769C>T (R257X). In a 29-year old male patient with Addison disease, alopecia, juvenile chronic arthritis and type I diabetes mellitus, combination of mutations of c.274>T (R92W) and c.967_979del13bp (Cys322fsX372) were identified. While in the first case the disease manifested by typical clinical dyad, in patient with atypical clinical picture the diagnosis was established only by laboratory examinations (anti-IFN autoantibodies). These, together with classic clinical symptomatology, might be the pillars of APS I diagnostic procedure. The fact that these are the first Slovak patients with this syndrome suggest for low prevalence of AIRE gene mutations in Slovak population, low incidence or insufficient identification of APS I patients in Slovakia.

Ročník 2009  Témy časopisu Internal medicine 3 / 2009

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