Enberg Ulla, Volpe Cristina, Höög Anders, Wedell Anna, Farnebo Lars-Ove, Thorén Marja, Hamberger Bertil
Department of Surgical Sciences, Section of Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Eur J Endocrinol. 2004 Jul;151(1):73-85. doi: 10.1530/eje.0.1510073.
Primary aldosteronism (PA) is characterized by hypertension, hypokalemia and suppressed renin-angiotensin system caused by autonomous aldosterone production. The aim of this study was to localize mRNA expression of the genes coding for steroidogenic enzymes in adrenals from a group of patients with PA and relate this to clinical work-up, histopathology and outcome of adrenalectomy.
This was a retrospective study of 27 patients subjected to adrenalectomy for PA.
Clinical data were collected and follow-up of all patients was performed. Paraffin-embedded specimens were analyzed by the in situ hybridization technique, with oligonucleotide probes coding for the steroidogenic enzyme genes.
The resected adrenals had the histopathologic diagnosis of adenoma (11), adenoma and/or hyperplasia (15) or hyperplasia (1). CYP11B2 expression (indicating aldosterone production) was found in a dominant adrenal nodule from 22 patients. Fourteen of these had additional CYP11B2 expression in the zona glomerulosa. All 22 patients were cured of PA by adrenalectomy. One of these patients, who had additional high expression of CYP11B2 in the zona glomerulosa, was initially cured, but the condition had recurred at follow-up. Two patients had a mass shown on computed tomography without CYP11B2 but with CYP11B1 and CYP17 expression (indicating cortisol production). Instead their adrenals contained small nodules with CYP11B2 expression. These patients were not cured.
Clinical data, endocrinologic evaluation and histopathology in combination with mRNA in situ hybridization of steroidogenic enzyme genes provide improved opportunities for correct subclassification postoperatively of patients with primary aldosteronism. At present, the in situ hybridization method is of special value for analysis of cases not cured by adrenalectomy.
原发性醛固酮增多症（PA）的特征是高血压、低钾血症以及由自主性醛固酮分泌导致的肾素 - 血管紧张素系统受抑制。本研究的目的是定位一组PA患者肾上腺中编码类固醇生成酶的基因的mRNA表达，并将其与临床检查、组织病理学及肾上腺切除术的结果相关联。
这是一项对27例行肾上腺切除术治疗PA的患者的回顾性研究。
收集临床数据并对所有患者进行随访。采用原位杂交技术，用编码类固醇生成酶基因的寡核苷酸探针分析石蜡包埋标本。
切除的肾上腺组织病理学诊断为腺瘤（11例）、腺瘤和/或增生（15例）或增生（1例）。在22例患者的优势肾上腺结节中发现了CYP11B2表达（表明有醛固酮分泌）。其中14例在球状带还有额外的CYP11B2表达。所有22例患者经肾上腺切除术后PA均得到治愈。其中1例患者在球状带还有额外的CYP11B2高表达，最初治愈，但随访时病情复发。2例患者计算机断层扫描显示有肿块，无CYP11B2表达，但有CYP11B1和CYP17表达（表明有皮质醇分泌）。相反，他们的肾上腺含有有CYP11B2表达的小结节。这些患者未治愈。
临床数据、内分泌评估、组织病理学以及类固醇生成酶基因的mRNA原位杂交相结合，为原发性醛固酮增多症患者术后正确的亚分类提供了更好的机会。目前，原位杂交方法对于分析肾上腺切除术后未治愈的病例具有特殊价值。
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