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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
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
Clinical Endocrinology, Volume 73, No. 3, Year 2010
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Description
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. © 2010 Blackwell Publishing Ltd.
Authors & Co-Authors
Ross, Ian Louis
South Africa, Observatory
Groote Schuur Hospital
Boulle, Andrew
South Africa, Cape Town
University of Cape Town
Soule, Steven Grant
New Zealand, Christchurch
University of Otago, Christchurch
Levitt, Naomi S.
South Africa, Observatory
Groote Schuur Hospital
Pirie, Fraser J.
South Africa, Durban
The Nelson R. Mandela Medical School
Karlsson, Anders
Sweden, Uppsala
Uppsala Universitet
Mienie, L. J.
South Africa, Potchefstroom
North-west University
Yang, Ping
United States, Augusta
Medical College of Georgia
Wang, Hongjie
United States, Augusta
Medical College of Georgia
She, Jinxiong
United States, Augusta
Medical College of Georgia
Winter, William
United States, Gainesville
Immunology and Laboratory Medicine
Schatz, Desmond A.
United States, Gainesville
University of Florida
Statistics
Citations: 27
Authors: 12
Affiliations: 9
Identifiers
Doi:
10.1111/j.1365-2265.2010.03807.x
ISSN:
03000664
e-ISSN:
13652265
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Noncommunicable Diseases
Study Design
Cohort Study
Study Locations
South Africa