Division of Endocrinology, University of Cape Town, Observatory, Cape Town, South Africa.
Clin Endocrinol (Oxf). 2010 Sep;73(3):291-8. doi: 10.1111/j.1365-2265.2010.03807.x. Epub 2010 Apr 23.
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.
We compiled a national registry of patients from primary care, referral centres and private practices.
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.
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 DQB10201 alleles predominated in the autoimmune group (DQB10201: 65%vs 43% of controls P = 0.017) with the *0201/*0302 heterozygous genotype being the most prevalent (28%vs 8%P = 0.02).
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.
我们旨在确定南非的 Addison 病是否主要由自身免疫引起，以及是否存在人类白细胞抗原（HLA）DQ 相关性。
我们从初级保健、转诊中心和私人诊所汇编了一个全国性的患者登记册。
共有 144 名患者，其中 94 名欧洲裔，34 名混合血统，5 名亚洲人和 11 名非洲黑人（平均年龄 45.9 岁，范围 2.7-88 岁；平均疾病持续时间 13.1 年，范围 0-50 年），并按性别和种族与对照组相匹配。所有潜在的病因都得到了调查。
51%的病例（74 名患者）病因是自身免疫性的。21-羟化酶自身抗体（72 名患者，整个患者组的 50%）或肾上腺皮质自身抗体（35 名患者，24%）存在，而 23%的患者同时存在两者。没有亚洲人（n=5）或黑人（n=11）患者有自身免疫性疾病的证据。总体而言，8%的患者有结核病，4%有肾上腺脑白质营养不良，1%有促肾上腺皮质激素抵抗综合征，6%有 X 连锁肾上腺发育不良。在自身免疫性疾病患者中，原发性甲状腺功能减退症（47%）、卵巢早衰（8%）和 1 型糖尿病（7%）是最常见的伴随自身免疫性疾病。自身免疫组中 HLA DQB10201 等位基因占优势（DQB10201：65%比对照组的 43%，P=0.017），最常见的是*0201/*0302 杂合基因型（28%比对照组的 8%，P=0.02）。
虽然自身免疫在南非的 Addison 病患者中至少占一半，并且与 HLA DQB1*0201 相关，但在本队列中的黑人或亚洲人都没有肾上腺自身抗体。此外，21-羟化酶自身抗体的检出率高于肾上腺皮质自身抗体，尤其是在疾病发病后病史较长的患者中。
