本文選題：庫(kù)欣綜合征　切入點(diǎn)：原發(fā)性色素性結(jié)節(jié)樣腎上腺皮質(zhì)病　出處：《山東醫(yī)藥》2017年26期

【摘要】：目的分析1例原發(fā)性色素性結(jié)節(jié)樣腎上腺皮質(zhì)病(PPNAD)所致庫(kù)欣綜合征患者的家系和基因突變情況。方法對(duì)1例PPNAD患者及其家系進(jìn)行病史收集及各項(xiàng)相關(guān)檢查并隨訪,采集患者及其家系成員全血樣本,對(duì)PRKAR1α、PDE11A、PDE8B基因進(jìn)行測(cè)序。結(jié)果先證者臨床表現(xiàn)為典型庫(kù)欣綜合征,血皮質(zhì)醇節(jié)律消失,小、大劑量地塞米松抑制試驗(yàn)示皮質(zhì)醇不受抑制,影像學(xué)檢查提示左側(cè)不典型腎上腺結(jié)節(jié)樣增生,手術(shù)切除腎上腺組織呈現(xiàn)色素結(jié)節(jié)樣病變及細(xì)胞內(nèi)脂褐素沉著,診斷為PPNAD。家系其他成員無(wú)庫(kù)欣綜合征及Carney綜合征表現(xiàn)。測(cè)序發(fā)現(xiàn)先證者PRKAR1α基因c.502GA突變可能為與該患者PPNAD發(fā)病相關(guān)的突變,編碼的氨基酸由甘氨酸轉(zhuǎn)變成絲氨酸。先證者母親同為該突變攜帶者。結(jié)論通過(guò)臨床及實(shí)驗(yàn)室檢查,確診1例PPNAD患者。先證者及1位一級(jí)親屬攜帶相同的PRKAR1α基因突變,該突變可能與PPNAD的發(fā)病相關(guān)。
[Abstract]:Objective to analyze 1 cases of primary pigmented nodular adrenocortical disease (PPNAD) caused by Cushing's family and gene mutations in patients with syndrome. Methods the history collection and related examinations of 1 cases of PPNAD patients and their family members were followed up, blood samples were collected and their families, PDE11A of PRKAR1 alpha. Sequencing of PDE8B gene. Results the proband is a typical clinical manifestation of Cushing syndrome, blood cortisol, cortisol rhythm disappeared, shown not inhibited by high-dose dexamethasone suppression test, imaging examination showed atypical left adrenal nodular hyperplasia, surgical removal of the adrenal gland tissue showed pigment nodules and intracellular lipofuscin pigmentation, diagnosis for other members of the PPNAD. family of Cushing syndrome and Carney syndrome. Sequencing revealed that the proband PRKAR1 alpha gene c.502GA mutation may be associated with the pathogenesis of PPNAD in patients with sudden Change encoding of amino acid by glycine into serine. Mother of the proband with the mutation carriers. Conclusion through clinical and laboratory examination, 1 cases were diagnosed PPNAD patients. The proband and 1 first-degree relatives of PRKAR1 alpha gene carrying the same mutation, the mutation may be associated with the pathogenesis of PPNAD.

【作者單位】： 北京積水潭醫(yī)院;上海瑞金醫(yī)院;
【分類號(hào)】：R586

【相似文獻(xiàn)】

相關(guān)期刊論文 前10條

1 祝宇,吳瑜璇;原發(fā)性色素性結(jié)節(jié)狀腎上腺皮質(zhì)病一例報(bào)告[J];中華泌尿外科雜志;2001年09期

2 徐兆平,張祖豹,金曉龍;原發(fā)性色素性結(jié)節(jié)性腎上腺皮質(zhì)病二例報(bào)告[J];中華泌尿外科雜志;2000年04期

3 祝宇,吳瑜璇,芮文斌,劉定益,周文龍,張榮明,孫�？�,張烙，

本文編號(hào)：1729236