Document Detail

Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease.
MedLine Citation:
PMID:  18426830     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Autoimmune polyendocrine syndrome type I (APS I) is a monogenic disease affecting endocrine glands and other organs due to mutations of the autoimmune regulator (AIRE) gene. There is a wide variability in clinical phenotypes in patients with APS I, which makes the diagnosis a challenge. OBJECTIVE: To screen for APS I among Slovakian patients with sporadic Addison's disease and clinical features that raised the suspicion of APS I. METHODS: All 14 exons and exon-intron boundaries of the AIRE gene were sequenced. In addition, autoantibodies specific for Addison's disease and polyendocrine syndromes were assayed. RESULTS: Using clinical criteria we identified four patients with APS I in three families. Two patients had a novel missense mutation in exon 2 (c.274C>T, p.R92W) and either the Finnish major mutation (c.769C>T) or the common 13 bp deletion (c.967-979del13bp). APS I was diagnosed in a brother of the latter after his death due to an adrenal crisis. A fourth patient had primary adrenal failure and hypoparathyroidism without AIRE mutations or APS-I specific autoantibodies. CONCLUSIONS: Four patients with APS I were found in a Slovakian cohort of Addison patients, although the lack of detectable AIRE mutations and APS I-specific autoantibodies raises uncertainty regarding the pathogenesis in one of the patients. This study demonstrates the merits of screening patients with phenotypic features or autoantibody findings that could indicate APS I, even in adult patients. It is necessary to identify APS I patients in order to provide appropriate treatment and follow-up of the various components of APS I.
Ng'weina F Magitta; Mikulás Pura; Anette S Bøe Wolff; Peter Vanuga; Anthony Meager; Per M Knappskog; Eystein S Husebye
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of endocrinology / European Federation of Endocrine Societies     Volume:  158     ISSN:  1479-683X     ISO Abbreviation:  Eur. J. Endocrinol.     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-04-22     Completed Date:  2008-05-15     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9423848     Medline TA:  Eur J Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  705-9     Citation Subset:  IM    
Institute for Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.
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MeSH Terms
Addison Disease / diagnosis*,  genetics*,  immunology
Autoantibodies / blood
Cohort Studies
Genetic Testing*
Middle Aged
Mutation, Missense
Polyendocrinopathies, Autoimmune / diagnosis*,  genetics*,  immunology
Polymorphism, Genetic
Transcription Factors / genetics
Reg. No./Substance:
0/APECED protein; 0/Autoantibodies; 0/Transcription Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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