| H01483 | |
| H番号 | H01483 |
| 名称 | 先端巨大症 |
| 概要 | Acromegaly (ACM) is a disorder characterized by increased circulating GH and IGF-I (a GH-induced liver protein) levels that is associated with significant morbidity and excess mortality. Patients with persistently elevated GH and IGF-I levels have an increased risk of multiple comorbidities, including left ventricular dysfunction, obstructive sleep apnea, arthritis, impaired glucose tolerance, and colonic polyps. Most cases of ACM occur as a result of a sporadic GH-secreting pituitary adenoma (PA). However, ACM can occur in a familial setting, either associated with other endocrine abnormalities or as an isolated disorder. Somatic activating mutations in the GNAS gene, which encodes for the Gs-alpha subunit of G-proteins, are found in up to 40% of sporadic GH-secreting PA. Familial ACM can occur in the context of rare inherited syndromes such as familial isolated pituitary adenoma (FIPA), which is caused in 15-20% of cases by aryl hydrocarbon receptor interacting protein (AIP) gene germline mutations. Moreover, a recurrent mutation was found in GPR101 in some patients with non-familial ACM. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06324(H01483) GHRH-GH-IGF signaling |
| 病因遺伝子 | AIP [HSA:9049] [KO:K17767] GNAS [HSA:2778] [KO:K04632] GPR101 [HSA:83550] [KO:K08423] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ブロモクリプチンメシル酸塩 [DR:D00780] ペグビソマント [DR:D05394] オクトレオチド酢酸塩 [DR:D02250] ランレオチド酢酸塩 [DR:D04666] パシレオチドパモ酸塩 [DR:D10566] |
| コメント | - |
| リンク | ICD-11: 5A60.0 ICD-10: E22.0 MeSH: D000172 OMIM: 300943 102200 |
| 文献 | PMID:26136383 著者 Capatina C, Wass JA タイトル 60 YEARS OF NEUROENDOCRINOLOGY: Acromegaly. 雑誌 J Endocrinol 226:T141-60 (2015) DOI:10.1530/JOE-15-0109 PMID:26815903 著者 Ferrau F, Romeo PD, Puglisi S, Ragonese M, Torre ML, Scaroni C, Occhi G, De Menis E, Arnaldi G, Trimarchi F, Cannavo S タイトル Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study. 雑誌 Endocrine 54:762-767 (2016) DOI:10.1007/s12020-016-0862-4 PMID:16118335 著者 Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S タイトル The implication of somatotroph adenoma phenotype to somatostatin analog responsiveness in acromegaly. 雑誌 J Clin Endocrinol Metab 90:6290-5 (2005) DOI:10.1210/jc.2005-0998 PMID:25470569 著者 Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA タイトル Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. 雑誌 N Engl J Med 371:2363-74 (2014) DOI:10.1056/NEJMoa1408028 |