醛固酮瘤发病相关基因研究进展

原发性醛固酮增多症（primaryaldosteronism,PA）是继发性高血压最常见的病因。目前研究认为,PA发病率占高血压总发病率的8％～10％,而在持续性高血压中,其发病率高达20％。PA包含多种亚型,以肾上腺单边醛固酮瘤（aldosterone—producingadenomas,APA）最为常见,占PA总发病率的30％～60％。     

B型超声对肾上腺醛固酮瘤定位诊断研究：漏,误诊原因分析

在经手术治疗疑有肾上腺醛固酮瘤的原发性醛固酮增多症２３８例中，超声定位诊断的敏感性、特异性和诊断正确率分别为９２．９８％、８１．２５％和９２．２１％。其中误诊（假阳性）３例占１．２６％。漏诊单瘤患者１１例，另有５例为同侧双瘤患者，超声均只检出其中之一，故共漏检肿瘤（假阴性）１６（１１＋５）个占７．０１％。文中针对失误原因进行分析讨论，旨在探寻提高诊断率的途径。     

肾上腺疾病352例分析

目的：分析总结肾上腺疾病的临床特点。方法：查阅华西医院1998／2004年入院行肾上腺手术患者的病案。对肾上腺疾病的临床特点进行回顾分析。结果：原醛病变最大径（1．8±0．7）cm；最大径≤3cm的肿瘤中良性疾病为99．2％。嗜铬细胞瘤具有特异性症状的比例73．9％，合并高血压的比例69．6％。结论：肾上腺疾病中醛固酮腺瘤的直径最小；不典型嗜铬细胞瘤是肾上腺偶发瘤鉴别诊断的重点。     

醛固酮合成酶基因多态性与高血压性脑出血的相关性研究

目的研究醛固酮合成酶（CYP11B2）基因-344T／C多态性与高血压性脑出血的关系。方法应用多聚酶链-限制性片段长度多态性（PCR—RFLP）技术，检测高血压性脑出血组132例、高血压对照组146例和正常对照组329例患者CYP11B2—344Y／C基因的多态性。结果脑出血组TC基因型的频率显著高于正常对照组，分别为37．12％和27．96％，CC基因型的频率显著高于正常对照组和高血压对照组，分别为11．36％、6．69％和5．48％；脑出血组C等位基因的频率也显著高于正常对照组和高血压对照组，分别为29．92％、20．67％和20．21％。结论醛固酮合成酶基因-344T／C多态性与高血压性脑出血相关；C等位基因可能是中国人高血压性脑出血的一个遗传标志。     

合并OSAS的难治性高血压患者醛固酮水平的研究

目的观察难治性高血压（RH）患者中阻塞性睡眠呼吸暂停综合征（OSAS）的患病率,及RH患者的血压和血浆醛固酮（ALD）、血浆肾素活性（PRA）的水平,OSAS对RH患者的影响及可能的机制。方法选择100例RH患者,均行多导睡眠监测,根据结果分为合并OSAS的RH组,和单纯RH组作为对照,分别测睡前（10：00PM）、夜间（02：00AM）和清晨（6：00AM）的血压及晨起（6：00AM）卧位血浆ALD、血浆PRA水平,ALD、PRA检测采用放射免疫分析法。结果抵抗型高血压患者中85％存在OSAS。与RH患者相比合并OSAS的RH患者血浆醛固酮增高（11．0ng／dl对5．5．g／dl,P〈0．05）,血浆肾素活性水平无差异[（0．20±0．12）μg/（L·h）对（0．27±0．14）μg/（L·h）,P〉0．05]。还观察到男性患者OSAS的患病率更高（89．O％对61．1％,P〈0．05）,OSAS的病情更重[中位呼吸暂停-低通气指数（AHI）分别为20．8次／h对10．8次／h,P〈0．01]且中位的ALD明显较高（12．0ng／dl对8．8ng／dl,P〈0．01）。结论RH患者中有较高的OSAS患病率,且合并OSAS的RH患者有较高的血浆醛固酮水平,可能是OSAS患者引起血压增高的机制。     

以心律失常为突出表现的原发性醛固酮增多症3例分析

高血压是常见病多发病,但随着目前肾上腺CT及肾上腺激素（皮质醇、醛固酮）检测技术的临床应用,在对血钾正常的高血压患进行筛查,发现近10%为原发醛固酮增多症.当患同时出现高血压、低血钾症状时,临床医生能够考虑到醛固酮增多症的诊断,但患以严重心律失常为突出表现时,可能易致误诊.现将我院2002年收治的3例分析如下.     

腹腔镜治疗原发性醛固酮增多症(附47例报告)

目的探讨原发性醛酮增多症的腹腔镜微创手术治疗。方法我院经腹腔入路腹腔镜治疗原发性醛固酮增多症患者共47例。肾上腺皮质腺瘤43例,肿瘤平均2.0 cm,32例行肾上腺全切术,11例行肾上腺部分切除术/肿瘤剜除术;肾上腺皮质增生4例,行肾上腺全切术。结果手术时间50~240m in,平均80m in;术中失血量20~300m l,平均76m。l中转开放手术2例(4.2%),其余手术成功。无严重并发症发生。所有患者术后第1天下床活动,术后平均住院时间5d。平均随访16个月,所有患者血钾恢复正常,35例血压恢复正常,其余患者降压药物用量较术前明显减少。结论腹腔入路腹腔镜肾上腺全切术或部分切除/肿瘤剜除术治疗原发性醛固酮增多症,微创、安全、疗效确切。     

两种体位激发试验对醛固酮瘤的诊断价值

目的：比较单纯体位激发试验及体位联合呋塞米双重激发试验对临床确诊的醛固酮瘤（APA）患者肾素活性（PRA）、醛固酮（ALD）、醛固酮/肾素比值（ARR）的影响。方法：对112例经我院手术切除并行病理检查确诊为醛固酮瘤（APA）的患者进行统计分析,其中60例术前行单纯体位激发试验（单纯激发组）,52例行体位联合呋塞米双重激发试验（双重激发组）,比较两组患者的一般情况、PRA、ALD数值,并计算ARR。结果：行体位联合呋塞米双重激发试验与单纯体位激发试验患者的一般情况、PRA、ALD、ARR均无显著性差异,双重激发组不良反应更多见,与单纯体位激发组相比差异有统计学意义（P〈0.05）。结论：在体位激发试验中是否加用呋塞米对APA患者的ARR影响不大,反而增加了不良反应的发生率。     

血液透析滤过联合螺内酯治疗透析患者难治性高血压临床研究

目的 观察血液透析滤过（HDF）联合螺内酯治疗慢性肾功能衰竭（CRF）难治性高血压的疗效。方法 将56例CRF伴难治性高血压患者随机分为2组：血液透析（HD）组28例和血液透析滤过（HDF）组28例。自HDF组中选择肌酐清除率（CCR）较高、无高钾血症的10例患者作为螺内酯组。HD组采用血液透析治疗；HDF组血液透析滤过治疗；均治疗2个月。螺内酯组口服螺内酯2周。3组均在联合应用降压药的基础上进行治疗。比较下列指标：①HD组、HDF组单次治疗前后醛固酮（ALD）、血清生化指标、血压变化；②HDF组治疗2个月后醛固酮、血清生化指标及血压变化；③HDF治疗2个月后改HD治疗，再服用螺内酯2周后，检测醛固酮、血清生化指标及血压变化。结果 ①单次HD及HDF均可清除醛固酮，2组治疗前后醛固酮水平：HD组（232．55±102．64）ng／L和（202．1±94．53）．g／L（P〈0.05）；HDF组（230．81±101．85）ng／L和（167．28±73．98）ng／L（P〈0.05）；2组间差异有显著性。2组治疗前后血压均无明显变化。②HDF治疗2个月后收缩压由（190．8±14．5）mmHg降至（178．6±4．2）mmHg（P〈0．05）；平均动脉压由（128．9±11．78）mmHg降至（117．3±10．60）mmHg（P〈0.05），均较治疗前下降。醛固酮由（228．85±48．90）ng／L降至（215．85±46．23）ng／L，有下降趋势，但差异无显著性。③服用螺内酯与HDF治疗后血压进一步下降，SBP由（179．1±5．1）mmHg降至（169．7±5．4）minHg（P〈0．05），MAP由（118．5±11．0）mmHg降至（108．27±8，23）mmHg，醛固酮较前上升（P〈0．05）。结论 血液透析滤过及螺内酯治疗CRF难治性高血压有效。     

腹腔镜双侧肾上腺次全切除术治疗原发性醛固酮增多症

目的报道腹腔镜双侧肾上腺次全切除术治疗肾上腺皮质增生引起的原发性醛固酮增多症的经验,评价其安全性,有效性和效果。方法回顾性分析2例由于肾上腺皮质增生引起的原发性醛固酮增多症的病人资料,包括高血压,低血钾症状,内分泌和CT检查。2例病人均行经后腹腔镜双侧肾上腺次全切除,每边保留约1/3的正常肾上腺腺体,一侧结束后再翻身行对侧手术。结果2例病人手术时间分别为230min和180min,出血量约150mL和100mL,术后3d停用外源性激素治疗,分别随访1年和2年未见复发。结论腹腔镜同时行双侧肾上腺次全切除术是安全、可行和有效的方法。     

吸收性止血绫及藻酸钙联合应用于功能性内镜鼻窦外科手术术腔填塞的研究

目的：探讨功能性内镜鼻窦外科手术（FESS）后鼻腔填塞方法的选择。方法：将326例行FESS手术的患者随机分成3组,3组患者术后分别选用不同的方法填塞鼻腔,A组：止血绫＋藻酸钙;B组：单用藻酸钙,C组：单用止血绫。比较各组于填塞过程中及取出填塞物过程中的鼻出血发生率,以及在填塞过程中中至重度不适感的发生率。结果：A组填塞鼻腔的止血效果好,该组患者在填塞过程及取出填塞物过程中鼻出血发生率均较B组或C组低（P〈0.05）,鼻腔填塞过程中中至重度不适发生率,A组与B组或C组无明显差异。结论：联合应用止血绫及藻酸钙是FESS手术后值得推荐的鼻腔填塞方法。     

Section 3. Adrenal: Laparoscopic partial adrenalectomy

Since corticosteroids are indispensable hormones, partial or cortical-sparing adrenalectomies may be adopted for the surgical treatment of adrenal diseases. In this article, we describe the technique and results of these procedures. Laparoscopic partial or cortical-sparing adrenalectomy has been performed in 10 patients. Seven cases had an aldosterone-producing adenoma (APA) and three had a pheochromocytoma. Three cases with an APA and a case with a pheochromocytoma had tumors located far from the adrenal central vein, and the vein could be preserved. Four cases with an APA and two with a pheochromocytoma had tumors located close to the adrenal central vein, and it was necessary to section the central vein to resect them. All endoscopic procedures were performed successfully. There were no postoperative complications. At follow-up, adrenal ¹³¹I-adosterol scintigrams showed the preservation of remnant adrenal function in all patients. Laparoscopic partial or cortical-sparing adrenal surgery was safely performed, and adrenal function was preserved irrespective of whether the adrenal central vein could be preserved or not. We consider this to be a useful operative technique for selected cases.     

后腹腔镜技术在泌尿外科中的应用

目的总结后腹腔镜技术在泌尿外科中的应用经验,探讨其在泌尿外科中的临床应用价值。方法回顾性分析2008～2010年行后腹腔镜手术的59例病例,其中肾上腺肿瘤18例行单侧肾上腺切除术,肾囊肿41例行肾囊肿去顶减压术。结果 59例患者均顺利完成手术,肾囊肿去顶减压术平均时间60 min,平均出血量40 ml;单侧肾上腺切除术平均手术时间140 min,平均出血量178 ml。结论后腹腔镜技术具有创伤小、并发症少、恢复快等优点,在泌尿外科中具有很大临床应用价值。     

Bilateral aldosterone-producing adenomas: differentiation from bilateral adrenal hyperplasia

BACKGROUND: Primary aldosteronism (PA) is a common curable disease of secondary hypertension. Most such patients have either idiopathic bilateral adrenal hyperplasia (BAH) or unilateral aldosterone-producing adenoma (APA). Bilateral APAs are reportedly extremely rare. AIM: To compare the distinctive characteristics, clinical course, and outcomes of bilateral APA vs. BAH. DESIGN: Retrospective record review. METHODS: From July 1994 to Jan 2007, 190 patients diagnosed with PA underwent surgical intervention at our hospital. Bilateral APA was diagnosed in 7/164 patients with histologically-proven APA. Twenty-one patients diagnosed as BAH, and 21 randomly selected of unilateral APA patients, matched by age and sex served as controls. RESULTS: Patients with bilateral APA had similar blood pressure, arterial blood gas analysis, spot urinary potassium to creatinine ratio and clinical symptoms to those with BAH, but lower serum potassium levels (p = 0.027), lower plasma renin activity (p = 0.037), and higher plasma aldosterone concentrations (p = 0.029). Aldosterone-renin ratio (ARR) after administration of 50 mg captopril was higher in bilateral APA than in BAH patients (p = 0.023), but not different between unilateral APA and BAH (p = 0.218). A cut-off of ARR >100 ng/dl per ng/ml/h and plasma aldosterone >20 ng/dl after captopril significantly differentiated bilateral APA from BAH. Bilateral subtotal adrenalectomy normalized blood pressure and biochemistry in all patients with bilateral APA. DISCUSSION: Bilateral APA, presenting simultaneously or sequentially, may not be a rare disease, accounting for 4.3% of APA in this sample. The clinical presentations of bilateral functional adenoma are not different from BAH, but patients with low serum potassium and ARR >100 after captopril should be carefully evaluated for bilateral adenoma.     

Accuracy of CT scanning and adrenal vein sampling in the pre-operative localization of aldosterone-secreting adrenal adenomas.

In primary hyperaldosteronism, it is important to distinguish between unilateral and bilateral disease, as management strategies differ. In the period 1983-95, we identified 34 patients with primary hyperaldosteronism. Following further investigations, a diagnosis of aldosterone-secreting adenoma was made in 17 patients, and surgery was performed. Computed tomography clearly localized an apparent adenoma (discrete adenoma=1 cm diameter; normal contralateral gland) in only 10 of these patients (59%); two of these 'adenomas' were subsequently shown to be hyperplastic glands without adenomas. Histological examination showed adrenal adenomas in the remaining 15 patients. An 'adenoma' also appeared to be clearly localized in 3/17 patients later classified as having bilateral adrenal hyperplasia by adrenal vein sampling. CT scanning, therefore clearly localizes adenomas in only 50% of histologically proven cases, and can also produce misleading results. Adrenal vein sampling results altered our management approach in one third of cases. On the basis of our detailed results we would recommend surgery if there is clear evidence of unilateral aldosterone secretion along with CT findings which may not be strictly localizing but are in keeping with the dominant side on adrenal vein sampling. The decision to refer for surgery in primary hyperaldosteronism can be difficult, and we would caution against too heavy a reliance on CT results when recommending adrenalectomy, and suggest that adrenal vein sampling should remain a routine part of the investigation of patients with primary hyperaldosteronism.     

Primary hyperaldosteronism diagnosed with adrenal vein sampling. Characteristics and follow-up after adrenalectomy in a Danish study

Background: Primary hyperaldosteronism (PA), known as Mb Conn, is one of the most common forms of secondary hypertension in middle-aged adults. High plasma aldosterone has been associated with severe organ damage. The unilateral aldosterone-producing adenoma (lateralized disease) is a subtype of PA, which can be fully or partly cured by adrenalectomy. Methods: Retrospective review of data from 50 patients who underwent adrenal venous sampling (AVS) was performed. Medical records, plasma renin and aldosteron, confirmatory tests and medical imaging (predominantly Computed Tomography and Magnetic Resonance Imaging) were available. Patients with lateralized disease (n?=?39) underwent adrenalectomy and additional clinical data at least one year after surgery was recorded. Results: Age and gender were widely and equally distributed (median age?=?51, age span?=?28–73). Patients with lateralized disease had higher blood pressure (BP) and lower serum potassium compared to patients with bilateral hyperplasia. No difference regarding age and gender distribution was detected. Despite lateralized disease diagnosed from AVS, the medical images were normal in 10 patients (28%). Follow-up of 30 patients who underwent adrenalectomy showed that six patients were cured, 17 had better BP control, five patients had no effect and one patient had higher BP but decreased number of antihypertensive drugs. Conclusion: PA is of equal prevalence in men and women, young and old individuals. The agreement between imaging modalities and AVS is limited, and the final diagnosis must rely on AVS. Patients prone for surgery had better BP control after adrenalectomy.     

特发性醛固酮增多症的手术治疗效果分析

目的 :探讨特发性醛固酮增多症 (IHA)的手术治疗效果及意义。方法 :分析 31例IHA的临床特点 ;17例表现为一侧肾上腺结节样增生 ,对侧正常或弥漫增生者行手术治疗。对手术病例的选取原则及疗效影响因素进行评价。结果 :共随访到手术病例 15例 ,血钾恢复正常率 80 % (12 / 15 ) ,高血压治愈率 13.3% (2 / 15 ) ,缓解率 6 0 % (9/ 15 ) ,手术无效率 2 6 .7% (4/ 15 )。治愈组术前血浆肾素水平 (PRA)正常率 5 0 % (1/ 2 ) ,持续高血压组为 30 .8% (4/ 13) (P >0 .0 5 ) ;治愈组高血压病程 6 .5年 ,持续高血压组 6年 (P >0 .0 5 )。 4例无效者 2例行部分肾上腺切除 ,2例一侧肾上腺切除后对侧复发结节。结论 :单侧肾上腺结节增生型IHA有功能自主性 ,手术可治愈或改善高血压 ,消除低钾引起的心肾毒性。术式选择不当、病灶切除不彻底或复发 ,是影响手术效果的重要因素。     

Primary aldosteronism: a pictorial essay

Primary aldosteronism is defined as secondary hypertension accompanied by aldosterone hypersecretion that leads to suppressed plasma renin, hypokaremia and hypertension. Primary aldosteronism occurs in 3–15% of hypertensive patients and is commonly caused by aldosterone-producing adenoma (APA) or bilateral idiopathic hyperaldosteronism (IHA). APA is usually treated by adrenalectomy, whereas IHA is best managed medically. Therefore, it is important to distinguish between unilateral and bilateral disease. Computed tomography (CT) is used to differentiate the subtypes. Even when multidetector CT is used, the detection rate of APAs of 1 cm or less is lower than 60% for the following reasons: (a) aldosterone secretion does not depend on tumor size, (b) a tumor may exist without lipid-rich cells, and (c) non-functioning unilateral adenomas are not uncommon, especially in older patients. Adrenal venous sampling is the gold standard for the differentiation of unilateral from bilateral disease in patients with primary aldosteronism. It is important to compare the laterality of aldosterone secretion by performing simultaneous bilateral blood collection 15 min following adrenocorticotropic hormone stimulation. The value of (aldosterone/cortisol)_side/(aldosterone/cortisol)_{contralateral side} provides the best discrimination between patients with and without APA.     

Prenatal ultrasound diagnosis of congenital cystic adenomatoid malformation of the lung: a report of 26 cases and review of the literature.

OBJECTIVES: To evaluate the sonographic appearances and prenatal natural history of congenital cystic adenomatoid malformation of the lung. METHODS: In each case a detailed examination of the thoracic lesion and a complete fetal survey was performed. The pregnancies that elected to continue were followed to term. RESULTS: A total of 26 cases were identified. The pregnancy was electively terminated in nine cases (35%). All the remaining 17 pregnancies ended in liveborn infants (100%). The lesion disappeared completely in three fetuses (18%). Of the 14 infants in whom the lesion was confirmed at birth nine required surgery in the neonatal or post-natal period. Five children did not undergo surgery. CONCLUSIONS: Conservative management appears to be an adequate medical practice in cases of isolated congenital unilateral cystic adenomatoid malformation of the lung, in the absence of hydrops and/or acute polyhydramnios.