Addison’s disease is a disease of the adrenal cortex caused by autoimmune destruction of the adrenal gland with fibrosis and mononuclear cell infiltration. Symptoms become evident when more than 90% of the adrenal gland is destroyed.
Addison’s disease is characterized by increased production of adrenocorticotropic hormone (ACTH) and adrenal insufficiency with reduced production of corticosteroids and androgens. Patients present with hypotension, weakness, fatigue, light headedness when standing up, anorexia, nausea, salt craving and increased melanin pigmentation of the skin.
Highest genetic risk is associated with particular Major Histocompatibility Complex (MHC) alleles, specifically Human Leukocyte Antigen (HLA)-DR3 and HLA-DR4. Genetic testing can offer a better understanding of the origin of the disease, for improved diagnosis and treatment.
Kashi Clinical Laboratories utilizes a combination of PCR-SSO (polymerase chain reaction sequence specific oligonucleotide typing) and SBT (sequence based typing) for testing.
Kashi's in-house laboratory and experienced health professionals ensure that customer service is personal, timely, and tailored to every patient's needs.
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- Ghaderi M et al. MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency. J Clin Endocrinol Metab. 2006; 91:4107.
- Gylling M et al. ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2000; 85:4434.
- Maclaren NK et al. Thyroid, gastric, and adrenal autoimmunities associated with insulin-dependent diabetes mellitus. Diabetes Care. 1985; 8 Suppl 1:34.
- Partanen J et al. Major histocompatibility complex class II and III in Addison's disease. MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility. Hum Immunol. 1994; 41:135.