原发性色素性结节性肾上腺皮质病家系报告并基因突变分析

发布时间：2018-04-10 02:21

本文选题：库欣综合征　切入点：原发性色素性结节样肾上腺皮质病　出处：《山东医药》2017年26期

【摘要】：目的分析1例原发性色素性结节样肾上腺皮质病(PPNAD)所致库欣综合征患者的家系和基因突变情况。方法对1例PPNAD患者及其家系进行病史收集及各项相关检查并随访,采集患者及其家系成员全血样本,对PRKAR1α、PDE11A、PDE8B基因进行测序。结果先证者临床表现为典型库欣综合征,血皮质醇节律消失,小、大剂量地塞米松抑制试验示皮质醇不受抑制,影像学检查提示左侧不典型肾上腺结节样增生,手术切除肾上腺组织呈现色素结节样病变及细胞内脂褐素沉着,诊断为PPNAD。家系其他成员无库欣综合征及Carney综合征表现。测序发现先证者PRKAR1α基因c.502GA突变可能为与该患者PPNAD发病相关的突变,编码的氨基酸由甘氨酸转变成丝氨酸。先证者母亲同为该突变携带者。结论通过临床及实验室检查,确诊1例PPNAD患者。先证者及1位一级亲属携带相同的PRKAR1α基因突变,该突变可能与PPNAD的发病相关。
[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.

【作者单位】：北京积水潭医院;上海瑞金医院;
【分类号】：R586

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