Autoimmune Addison disease
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Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.
Descrição
Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.
The signs and symptoms of autoimmune Addison disease can begin at any time, although they most commonly begin between ages 30 and 50. Common features of this condition include extreme tiredness (fatigue), nausea, decreased appetite, and weight loss. In addition, many affected individuals have low blood pressure (hypotension), which can lead to dizziness when standing up quickly; muscle cramps; and a craving for salty foods. A characteristic feature of autoimmune Addison disease is abnormally dark areas of skin (hyperpigmentation), especially in regions that experience a lot of friction, such as the armpits, elbows, knuckles, and palm creases. The lips and the inside lining of the mouth can also be unusually dark. Because of an imbalance of hormones involved in development of sexual characteristics, women with this condition may lose their underarm and pubic hair.
Other signs and symptoms of autoimmune Addison disease include low levels of sugar (hypoglycemia) and sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood. Affected individuals may also have a shortage of red blood cells (anaemia) and an increase in the number of white blood cells (lymphocytosis), particularly those known as eosinophils (eosinophilia).
Autoimmune Addison disease can lead to a life-threatening adrenal crisis, characterised by vomiting, abdominal pain, back or leg cramps, and severe hypotension leading to shock. The adrenal crisis is often triggered by a stressor, such as surgery, trauma, or infection.
Individuals with autoimmune Addison disease or their family members can have another autoimmune disorder, most commonly autoimmune thyroid disease or type 1 diabetes.
Padrões de herança
The source lists the following possible inheritance patterns: Pattern unknown. More than one pattern can apply in different cases.
Related genes
Other names
Doença de Addison autoimune
Autoimmune adrenalitis
Classic Addison disease
Primary Addison disease
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Leitura adicional e referências
- Autoimmune Addison disease; MedlinePlus, National Library of Medicine.
- Gombos Z, Hermann R, Kiviniemi M, Nejentsev S, Reimand K, Fadeyev V, Peterson P, Uibo R, Ilonen J. Analysis of extended human leukocyte antigen haplotype association with Addison's disease in three populations. Eur J Endocrinol. 2007 Dec;157(6):757-61. doi: 10.1530/EJE-07-0290.
- Husebye E, Lovas K. Pathogenesis of primary adrenal insufficiency. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):147-57. doi: 10.1016/j.beem.2008.09.004.
- Mitchell AL, Pearce SH. Autoimmune Addison disease: pathophysiology and genetic complexity. Nat Rev Endocrinol. 2012 Jan 31;8(5):306-16. doi: 10.1038/nrendo.2011.245.
- Napier C, Pearce SH. Autoimmune Addison's disease. Presse Med. 2012 Dec;41(12 P 2):e626-35. doi: 10.1016/j.lpm.2012.09.010. Epub 2012 Nov 21.
- Rottembourg D, Deal C, Lambert M, Mallone R, Carel JC, Lacroix A, Caillat-Zucman S, le Deist F. 21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addison's disease. J Autoimmun. 2010 Dec;35(4):309-15. doi: 10.1016/j.jaut.2010.07.001. Epub 2010 Aug 3.
- Skinningsrud B, Lie BA, Lavant E, Carlson JA, Erlich H, Akselsen HE, Gervin K, Wolff AB, Erichsen MM, Lovas K, Husebye ES, Undlien DE. Multiple loci in the HLA complex are associated with Addison's disease. J Clin Endocrinol Metab. 2011 Oct;96(10):E1703-8. doi: 10.1210/jc.2011-0645. Epub 2011 Aug 3.
- Yu L, Brewer KW, Gates S, Wu A, Wang T, Babu SR, Gottlieb PA, Freed BM, Noble J, Erlich HA, Rewers MJ, Eisenbarth GS. DRB1*04 and DQ alleles: expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease. J Clin Endocrinol Metab. 1999 Jan;84(1):328-35. doi: 10.1210/jcem.84.1.5414.
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