先天性肾上腺皮质增生症(congenital adrenal hyperplasia, CAH)是因肾上腺皮质类固醇激素合成过程中酶的缺陷而引起的一组疾病,为常染色体隐性遗传性疾病,临床以21-羟化酶缺乏症最常见。生理情况下,肾上腺皮质利用胆固醇合成皮质醇、...先天性肾上腺皮质增生症(congenital adrenal hyperplasia, CAH)是因肾上腺皮质类固醇激素合成过程中酶的缺陷而引起的一组疾病,为常染色体隐性遗传性疾病,临床以21-羟化酶缺乏症最常见。生理情况下,肾上腺皮质利用胆固醇合成皮质醇、醛固酮及睾酮,该过程需要多个酶的参与,如基因突变而导致某个酶的缺陷,则会引起不同程度的皮质激素减少而前体物质堆积。当皮质醇合成减少时,其对腺垂体的抑制作用减弱、ACTH分泌过多,后者刺激肾上腺皮质增生。临床表现取决于酶缺陷的种类及程度。若酶完全缺乏则相应激素分泌绝对不足,不及时治疗可导致死亡。若酶缺乏不完全,肾上腺仍能合成一定量的皮质激素,首发症状可在15岁以后出现,称为晚发型。先天性肾上腺皮质增生常因下列酶缺乏所致:21-羟化酶(P450c21)、11β-羟化酶(P450c11)、3β-羟类固醇脱氢酶(3β-HSD)、17α-羟化酶(P450c17)、胆固醇侧链裂解酶(P450 choles-terol side-chain cleavage enzyme, P450scc)及类固醇合成快速调节蛋白(steroidogenic acute regulatory protein, StAR)。近年来临床对CAH的认知度逐渐提高,本文就笔者在临床中遇到的一例晚发型先天性肾上腺皮质增生症(11-β羟化酶缺乏)患者,该型较为少见,所以为了加深临床对于11-β羟化酶缺乏的晚发型先天性肾上腺皮质增生症的了解,笔者对病例进行回顾性分析并进行相关文献复习,旨在为临床工作者提供相关诊断经验,提高临床医生对于CAH的认知水平与了解。Congenital adrenal hyperplasia (CAH) is a group of diseases caused by defects in enzymes during the process of adrenal cortex steroid hormone synthesis, which is an autosomal recessive genetic disorder. Clinically, deficiency of 21-hydroxylase is the most common. Physiologically, the adrenal cortex uses cholesterol to synthesize cortisol, aldosterone, and testosterone, a process that requires the involvement of multiple enzymes. If a gene mutation leads to a defect in a certain enzyme, it will result in varying degrees of reduced corticosteroid levels and accumulation of precursor substances. When cortisol synthesis decreases, its inhibitory effect on the pituitary gland weakens, leading to excessive ACTH secretion, which in turn stimulates the adrenal cortex hypertrophy. Clinical manifestations depend on the type and severity of the enzyme defect. If an enzyme is completely lacking, the corresponding hormone secretion is absolutely insufficient, and untreated cases can lead to death. If the enzyme is lacking incomplete, the adrenal glands can still produce a certain amount of cortical hormones, and the first symptoms may appear after the age of 15, known as late-onset. Congenital adrenal hyperplasia is often caused by deficiencies in the following enzymes: 21-hydroxylase (P450c21), 11β-hydroxylase (P450c11), 3β-hydroxysteroid dehydrogenase (3β-HSD), 17α-hydroxylase (P450c17), cholesterol side-chain cleavage enzyme (P450scc), and steroidogenic acute regulatory protein (StAR). In recent years, the clinical awareness of CAH has gradually increased. In this paper, the author encountered a case of late onset congenital adrenal hyperplasia(11-B hydroxylase deficiency) in the clinic, this type is relatively rare, so in order to deepen the clinical understanding of 11-B hydroxylase deficiency of late onset congenital adrenal hyperplasia, the author carried out a retrospective analysis of the cases and reviewed the relevant literature, in order to provide clinical workers with information related to the diagnosis experience, improve the cognition level and understanding of clinicians for CAH.展开更多
目的分析近五年发表的中医药治疗乳腺增生症(Hyperplasia of mammary glands,HMG)的随机对照试验(Randomized controlled trial,RCT)结局指标,为中医药治疗乳腺增生症的核心指标集的构建奠定基础。方法计算机检索中国知网(CNKI)、万方...目的分析近五年发表的中医药治疗乳腺增生症(Hyperplasia of mammary glands,HMG)的随机对照试验(Randomized controlled trial,RCT)结局指标,为中医药治疗乳腺增生症的核心指标集的构建奠定基础。方法计算机检索中国知网(CNKI)、万方数据知识服务平台(WanFang)、维普网(VIP)、中国生物医学文献服务系统(Sinomed)、Pubmed、Cochrane Library和Web of Science数据库自2019年1月1日—2024年5月20日期间的中医药治疗乳腺增生症的随机对照试验,根据纳入、排除标准筛选文献,统计文献基本信息及结局指标信息。结果共纳入175项RCTs,包含18499例患者。涉及中医病证、症状/体征、影像学检查、理化检测、安全性事件、生活质量、远期预后、经济学评估及其他共9类105种结局指标。使用频次排名前五的结局指标有:症状疗效(90.86%)、总有效率(90.86%)、最大肿块直径(67.43%)、雌二醇(Estradiol,E2)(51.43%)、不良反应(50.86%)。结论目前中医药治疗HMG的RCT结局指标存在指标数量与组合选择差异大、疗效评价标准模糊不统一、结局指标中医特色不足、相同指标测量方式差异大、指标测量时间点不统一、随访及远期预后缺乏关注以及经济学评估缺乏、安全性事件报告不清晰等问题。需要制订更为完善的指标集,明确最核心指标,以提高中医药研究的质量。展开更多
文摘先天性肾上腺皮质增生症(congenital adrenal hyperplasia, CAH)是因肾上腺皮质类固醇激素合成过程中酶的缺陷而引起的一组疾病,为常染色体隐性遗传性疾病,临床以21-羟化酶缺乏症最常见。生理情况下,肾上腺皮质利用胆固醇合成皮质醇、醛固酮及睾酮,该过程需要多个酶的参与,如基因突变而导致某个酶的缺陷,则会引起不同程度的皮质激素减少而前体物质堆积。当皮质醇合成减少时,其对腺垂体的抑制作用减弱、ACTH分泌过多,后者刺激肾上腺皮质增生。临床表现取决于酶缺陷的种类及程度。若酶完全缺乏则相应激素分泌绝对不足,不及时治疗可导致死亡。若酶缺乏不完全,肾上腺仍能合成一定量的皮质激素,首发症状可在15岁以后出现,称为晚发型。先天性肾上腺皮质增生常因下列酶缺乏所致:21-羟化酶(P450c21)、11β-羟化酶(P450c11)、3β-羟类固醇脱氢酶(3β-HSD)、17α-羟化酶(P450c17)、胆固醇侧链裂解酶(P450 choles-terol side-chain cleavage enzyme, P450scc)及类固醇合成快速调节蛋白(steroidogenic acute regulatory protein, StAR)。近年来临床对CAH的认知度逐渐提高,本文就笔者在临床中遇到的一例晚发型先天性肾上腺皮质增生症(11-β羟化酶缺乏)患者,该型较为少见,所以为了加深临床对于11-β羟化酶缺乏的晚发型先天性肾上腺皮质增生症的了解,笔者对病例进行回顾性分析并进行相关文献复习,旨在为临床工作者提供相关诊断经验,提高临床医生对于CAH的认知水平与了解。Congenital adrenal hyperplasia (CAH) is a group of diseases caused by defects in enzymes during the process of adrenal cortex steroid hormone synthesis, which is an autosomal recessive genetic disorder. Clinically, deficiency of 21-hydroxylase is the most common. Physiologically, the adrenal cortex uses cholesterol to synthesize cortisol, aldosterone, and testosterone, a process that requires the involvement of multiple enzymes. If a gene mutation leads to a defect in a certain enzyme, it will result in varying degrees of reduced corticosteroid levels and accumulation of precursor substances. When cortisol synthesis decreases, its inhibitory effect on the pituitary gland weakens, leading to excessive ACTH secretion, which in turn stimulates the adrenal cortex hypertrophy. Clinical manifestations depend on the type and severity of the enzyme defect. If an enzyme is completely lacking, the corresponding hormone secretion is absolutely insufficient, and untreated cases can lead to death. If the enzyme is lacking incomplete, the adrenal glands can still produce a certain amount of cortical hormones, and the first symptoms may appear after the age of 15, known as late-onset. Congenital adrenal hyperplasia is often caused by deficiencies in the following enzymes: 21-hydroxylase (P450c21), 11β-hydroxylase (P450c11), 3β-hydroxysteroid dehydrogenase (3β-HSD), 17α-hydroxylase (P450c17), cholesterol side-chain cleavage enzyme (P450scc), and steroidogenic acute regulatory protein (StAR). In recent years, the clinical awareness of CAH has gradually increased. In this paper, the author encountered a case of late onset congenital adrenal hyperplasia(11-B hydroxylase deficiency) in the clinic, this type is relatively rare, so in order to deepen the clinical understanding of 11-B hydroxylase deficiency of late onset congenital adrenal hyperplasia, the author carried out a retrospective analysis of the cases and reviewed the relevant literature, in order to provide clinical workers with information related to the diagnosis experience, improve the cognition level and understanding of clinicians for CAH.
文摘目的分析近五年发表的中医药治疗乳腺增生症(Hyperplasia of mammary glands,HMG)的随机对照试验(Randomized controlled trial,RCT)结局指标,为中医药治疗乳腺增生症的核心指标集的构建奠定基础。方法计算机检索中国知网(CNKI)、万方数据知识服务平台(WanFang)、维普网(VIP)、中国生物医学文献服务系统(Sinomed)、Pubmed、Cochrane Library和Web of Science数据库自2019年1月1日—2024年5月20日期间的中医药治疗乳腺增生症的随机对照试验,根据纳入、排除标准筛选文献,统计文献基本信息及结局指标信息。结果共纳入175项RCTs,包含18499例患者。涉及中医病证、症状/体征、影像学检查、理化检测、安全性事件、生活质量、远期预后、经济学评估及其他共9类105种结局指标。使用频次排名前五的结局指标有:症状疗效(90.86%)、总有效率(90.86%)、最大肿块直径(67.43%)、雌二醇(Estradiol,E2)(51.43%)、不良反应(50.86%)。结论目前中医药治疗HMG的RCT结局指标存在指标数量与组合选择差异大、疗效评价标准模糊不统一、结局指标中医特色不足、相同指标测量方式差异大、指标测量时间点不统一、随访及远期预后缺乏关注以及经济学评估缺乏、安全性事件报告不清晰等问题。需要制订更为完善的指标集,明确最核心指标,以提高中医药研究的质量。
