| H01598 | |
| H番号 | H01598 |
| 名称 | アジソン病; 原発性副腎機能不全; 副腎機能低下症 |
| 概要 | 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. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | NR0B1 [HSA:190] [KO:K08562] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | デキサメタゾン [DR:D00292] デキサメタゾンリン酸エステルナトリウム [DR:D00975] ベタメタゾンリン酸エステルナトリウム [DR:D00972] トリアムシノロンアセトニド [DR:D00983] ヒドロコルチゾン [DR:D00088] ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978] コルチゾン酢酸エステル [DR:D00973] トリアムシノロン [DR:D00385] ベタメタゾン [DR:D00244] プレドニゾロン [DR:D00472] プレドニゾロンコハク酸エステルナトリウム [DR:D01239] メチルプレドニゾロン [DR:D00407] フルドロコルチゾン酢酸エステル [DR:D00986] |
| コメント | - |
| リンク | ICD-11: 5A74.0 ICD-10: E27.1 MeSH: D000224 OMIM: 240200 300200 |
| 文献 | PMID:24755997 著者 Napier C, Pearce SH タイトル Current and emerging therapies for Addison's disease. 雑誌 Curr Opin Endocrinol Diabetes Obes 21:147-53 (2014) DOI:10.1097/MED.0000000000000067 PMID:24695602 著者 Michels A, Michels N タイトル Addison disease: early detection and treatment principles. 雑誌 Am Fam Physician 89:563-8 (2014) PMID:9529340 著者 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 タイトル DAX1 mutations map to putative structural domains in a deduced three-dimensional model. 雑誌 Am J Hum Genet 62:855-64 (1998) DOI:10.1086/301782 |