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Autoimmunity predominates in a large South African cohort with addison's disease of mainly European descent despite long-standing disease and is associated with HLA DQB*0201.
MedLine Citation:
PMID:  20455895     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
OBJECTIVE: We sought to determine whether autoimmunity is the predominant cause of Addison's disease in South Africa and whether human leucocyte antigen (HLA) DQ association exists.
DESIGN: We compiled a national registry of patients from primary care, referral centres and private practices.
PATIENTS: A total of 144 patients, 94 of European descent, 34 Mixed Ancestry, 5 Asian and 11 Black Africans (mean age 45.9 years, range 2.7-88 years; mean duration of disease 13.1 years, range 0-50 years) and controls were matched for gender and ethnicity. All potential causes were investigated.
RESULTS: Fifty one per cent of cases (74 patients) were autoimmune in aetiology. Either 21-hydroxylase autoantibodies (72 patients, 50% of entire patient group) or adrenocortical autoantibodies (35 patients, 24%) were present, while 23% of patients had both. None of the Asian (n = 5) or Black (n = 11) patients had evidence of autoimmune disease. Overall 8% of patients had tuberculosis, 4% adrenoleucodystrophy, 1% adrenocorticotrophic hormone resistance syndrome and 6% X-linked adrenal hypoplasia. In those with autoimmune disease primary hypothyroidism (47%), premature ovarian failure (8%) and type 1 diabetes (7%) were the most prevalent accompanying autoimmune conditions. HLA DQB1*0201 alleles predominated in the autoimmune group (DQB1*0201: 65%vs 43% of controls P = 0.017) with the *0201/*0302 heterozygous genotype being the most prevalent (28%vs 8%P = 0.02).
CONCLUSIONS: While autoimmunity accounts for at least half of patients with Addison's disease in South Africa and is associated with HLA DQB1*0201, none of the Black Africans or Asians in this cohort had adrenal autoantibodies. Moreover, 21-hydroxylase autoantibodies were detectable in a higher proportion than adrenocortical autoantibodies, especially in those patients with a long history after disease onset.
Authors:
Ian Ross; Andrew Boulle; Steven Soule; Naomi Levitt; Fraser Pirie; Anders Karlsson; Japie Mienie; Ping Yang; Hongjie Wang; Jin-Xiong She; William Winter; Desmond Schatz
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Publication Detail:
Type:  Journal Article     Date:  2010-04-23
Journal Detail:
Title:  Clinical endocrinology     Volume:  73     ISSN:  1365-2265     ISO Abbreviation:  Clin. Endocrinol. (Oxf)     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-08-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0346653     Medline TA:  Clin Endocrinol (Oxf)     Country:  England    
Other Details:
Languages:  eng     Pagination:  291-8     Citation Subset:  IM    
Affiliation:
Division of Endocrinology, University of Cape Town, Observatory, Cape Town, South Africa. ian.ross@uct.ac.za
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