Suppr超能文献

孕期诊断出的由分泌脱氧皮质酮的肾上腺肿瘤引起的高血压。

Hypertension due to a deoxycorticosterone-secreting adrenal tumour diagnosed during pregnancy.

作者信息

Marques Pedro, Tufton Nicola, Bhattacharya Satya, Caulfield Mark, Akker Scott A

机构信息

Department of Endocrinology, St. Bartholomew's Hospital, West Smithfield, London, UK.

Hepatobiliary and Pancreatic Surgery Unit, The Royal London Hospital, London, UK.

出版信息

Endocrinol Diabetes Metab Case Rep. 2019 May 3;2019. doi: 10.1530/EDM-18-0164.

Abstract

Mineralocorticoid hypertension is most often caused by autonomous overproduction of aldosterone, but excess of other mineralocorticoid precursors can lead to a similar presentation. 11-Deoxycorticosterone (DOC) excess, which can occur in 11-β hydroxylase or 17-α hydroxylase deficiencies, in DOC-producing adrenocortical tumours or in patients taking 11-β hydroxylase inhibitors, may cause mineralocorticoid hypertension. We report a 35-year-old woman who in the third trimester of pregnancy was found to have a large adrenal mass on routine obstetric ultrasound. On referral to our unit, persistent hypertension and long-standing hypokalaemia was noted, despite good compliance with multiple antihypertensives. Ten years earlier, she had hypertension noted in pregnancy which had persisted after delivery. A MRI scan confirmed the presence of a 12 cm adrenal mass and biochemistry revealed high levels of DOC and low/normal renin, aldosterone and dehydroepiandrosterone, with normal catecholamine levels. The patient was treated with antihypertensives until obstetric delivery, following which she underwent an adrenalectomy. Histology confirmed a large adrenal cortical neoplasm of uncertain malignant potential. Postoperatively, blood pressure and serum potassium normalised, and the antihypertensive medication was stopped. Over 10 years of follow-up, she remains asymptomatic with normal DOC measurements. This case should alert clinicians to the possibility of a diagnosis of a DOC-producing adrenal tumours in patients with adrenal nodules and apparent mineralocorticoid hypertension in the presence of low or normal levels of aldosterone. The associated diagnostic and management challenges are discussed. Learning points: Hypermineralocorticoidism is characterised by hypertension, volume expansion and hypokalaemic alkalosis and is most commonly due to overproduction of aldosterone. However, excess of other mineralocorticoid products, such as DOC, lead to the same syndrome but with normal or low aldosterone levels. The differential diagnosis of resistant hypertension with low renin and low/normal aldosterone includes congenital adrenal hyperplasia, syndrome of apparent mineralocorticoid excess, Cushing's syndrome, Liddle's syndrome and 11-deoxycorticosterone-producing tumours. DOC is one intermediate product in the mineralocorticoid synthesis with weaker activity than aldosterone. However, marked DOC excess seen in 11-β hydroxylase or 17-α hydroxylase deficiencies in DOC-producing adrenocortical tumours or in patients taking 11-β hydroxylase inhibitors, may cause mineralocorticoid hypertension. Excessive production of DOC in adrenocortical tumours has been attributed to reduced activity of the enzymes 11-β hydroxylase and 17-α hydroxylase and increased activity of 21-α hydroxylase. The diagnosis of DOC-producing adrenal tumours is challenging because of its rarity and poor availability of DOC laboratory assays.

摘要

盐皮质激素性高血压最常见的原因是醛固酮自主性过度分泌,但其他盐皮质激素前体过量也可导致类似表现。11-脱氧皮质酮(DOC)过量可导致盐皮质激素性高血压,其可发生于11-β羟化酶或17-α羟化酶缺乏、产生DOC的肾上腺皮质肿瘤或服用11-β羟化酶抑制剂的患者中。我们报告一名35岁女性,在妊娠晚期常规产科超声检查时发现肾上腺有一巨大肿块。转诊至我院后,尽管患者很好地遵医嘱服用多种降压药,但仍存在持续性高血压和长期低钾血症。10年前,她在孕期被诊断为高血压,产后仍持续存在。磁共振成像(MRI)扫描证实存在一个12 cm的肾上腺肿块,生化检查显示DOC水平升高,肾素、醛固酮和脱氢表雄酮水平低/正常,儿茶酚胺水平正常。该患者在产科分娩前一直用降压药治疗,之后接受了肾上腺切除术。组织学检查证实为一个恶性潜能不确定的巨大肾上腺皮质肿瘤。术后,血压和血钾恢复正常,停用了降压药。经过10多年的随访,她无症状,DOC测量值正常。该病例应提醒临床医生,对于肾上腺结节患者,若存在明显的盐皮质激素性高血压且醛固酮水平低或正常,要考虑诊断为产生DOC的肾上腺肿瘤。文中还讨论了相关的诊断和管理挑战。学习要点:盐皮质激素过多症的特征为高血压、血容量增加和低钾性碱中毒,最常见的原因是醛固酮过度分泌。然而,其他盐皮质激素产物如DOC过量也可导致相同综合征,但醛固酮水平正常或降低。低肾素和低/正常醛固酮水平的顽固性高血压的鉴别诊断包括先天性肾上腺皮质增生、表观盐皮质激素过多综合征、库欣综合征、利德尔综合征和产生11-脱氧皮质酮的肿瘤。DOC是盐皮质激素合成中的一种中间产物,活性比醛固酮弱。然而,在11-β羟化酶或17-α羟化酶缺乏、产生DOC的肾上腺皮质肿瘤或服用11-β羟化酶抑制剂的患者中,若出现明显的DOC过量,可能会导致盐皮质激素性高血压。肾上腺皮质肿瘤中DOC的过度产生归因于11-β羟化酶和17-α羟化酶活性降低以及21-α羟化酶活性增加。由于产生DOC的肾上腺肿瘤罕见且DOC实验室检测方法有限,其诊断具有挑战性。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验