H01598 | |
H number | H01598 |
Name | Addison disease; Primary adrenal insufficiency; Hypoadrenocorticism |
Description | Primary adrenocortical insufficiency, also known as Addison disease, is a rare but fatal endocrine disorder characterized by the progressive destruction of the adrenal cortex, resulting in insufficient production of glucocorticoids, mineralocorticoids, and adrenal androgens. Although tuberculosis remains a significant cause in developing countries, autoimmune adrenalitis is the most common cause of Addison disease in developed nations. It has also been reported that DAX1 mutations result in X-linked adrenal hypoplasia congenita (X-linked Addison disease). The clinical manifestations before a life-threatening adrenal crisis (shock, hypotension, and volume depletion) are subtle and can include hyperpigmentation, fatigue, anorexia, orthostasis, nausea, muscle and joint pain, and salt craving. Symptoms are gradual and worsen over a period of years, making early diagnosis difficult. Treatment for Addison disease consists of lifelong hormone therapy with glucocorticoids and mineralocorticoids. |
Category | Endocrine and metabolic disease |
Network | - |
Gene | NR0B1 [HSA:190] [KO:K08562] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Triamcinolone acetonide [DR:D00983] Dexamethasone sodium phosphate [DR:D00975] Hydrocortisone [DR:D00088] Prednisolone sodium phosphate [DR:D00981] Prednisone [DR:D00473] Fludrocortisone acetate [DR:D00986] |
Comment | - |
Other DBs | ICD-11: 5A74.0 ICD-10: E27.1 MeSH: D000224 OMIM: 240200 300200 |
Reference | PMID:24755997 AUTHORS Napier C, Pearce SH TITLE Current and emerging therapies for Addison's disease. JOURNAL Curr Opin Endocrinol Diabetes Obes 21:147-53 (2014) DOI:10.1097/MED.0000000000000067 PMID:24695602 AUTHORS Michels A, Michels N TITLE Addison disease: early detection and treatment principles. JOURNAL Am Fam Physician 89:563-8 (2014) PMID:9529340 AUTHORS Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER TITLE DAX1 mutations map to putative structural domains in a deduced three-dimensional model. JOURNAL Am J Hum Genet 62:855-64 (1998) DOI:10.1086/301782 |