Autoantibodies against Aromatic l-Amino Acid Decarboxylase Identifies a Subgroup of Patients with Addison’s Disease1
| Autor: | Maria Halonen, Fredrik Rorsman, Olle Kämpe, Olov Ekwall, Petra Björses, Eystein S. Husebye, Annika Söderbergh |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
endocrine system
medicine.medical_specialty endocrine system diseases Endocrinology Diabetes and Metabolism Clinical Biochemistry Vitiligo Biochemistry Thyroiditis Autoimmune thyroiditis 03 medical and health sciences 0302 clinical medicine Endocrinology Internal medicine Medicine 030304 developmental biology Autoimmune disease 0303 health sciences business.industry Biochemistry (medical) Autoantibody medicine.disease Anti-thyroid autoantibodies 3. Good health Autoimmune polyendocrine syndrome Addison's disease Immunology business 030217 neurology & neurosurgery |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 85:460-463 |
| ISSN: | 1945-7197 0021-972X |
| DOI: | 10.1210/jcem.85.1.6266 |
| Popis: | Autoantibodies against aromatic l-amino acid decarboxylase (AADC) are present in about 50 percent of sera from patients with autoimmune polyendocrine syndrome type I (APS I) but absent in sera from patients with different organ-specific autoimmune diseases, such as insulin-dependent diabetes mellitus, Hashimoto’s thyroiditis, and Graves’ disease. AADC is expressed in the pancreatic β-cells, the liver, and the nervous system; and the presence of AADC antibodies has been shown to correlate to hepatitis and vitiligo in APS I patients. Among 101 investigated patients with autoimmune Addison’s disease, 15 had high titers of AADC antibodies. According to the clinical characteristics of these patients, only 3 had APS I. The remaining 12 had either isolated Addison’s disease or associated diabetes mellitus, hypothyroidism, vitiligo, alopecia, gonadal failure, and pernicious anemia. Autoantibodies against 21-hydroxylase were present in 9 of 12, whereas autoantibodies against side-chain cleavage enzyme and 17α-hydroxylase were present in 3 of 12. Two patients had only autoantibodies against AADC. DNA was available from 3 of these 12 patients. One of the patients, a woman with Addison’s disease, autoimmune thyroiditis, and premature menopause was heterozygous for a point mutation (G1021A, Val301Met) in the first plant homeodomain zinc finger domain of the autoimmune regulator (AIRE) gene. The presence of AADC autoantibodies identifies patients with APS I and a subgroup of Addison patients who may have a milder atypical form of APS I or represent a distinct entity. Measurement of autoantibodies against AADC should be included in the evaluation of Addison’s disease. |
| Databáze: | OpenAIRE |
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