嗜铬细胞瘤26例临床分析

目的本文对２６例经手术病理证实的嗜铬细胞瘤进行回顾性分析。结果嗜铬细胞瘤临床主要表现为阵发性高血压，头痛、心悸、大汗等症状。不典型临床表现有：（１）无症状；（２）进行性视力下降；（３）脑血管意外。综合本组病例的临床资料，诊断嗜铬细胞瘤的要点有：（１）病史中存在阵发性高血压的线索；（２）血中儿茶酚胺浓度增高；（３）１３１Ｉ－ＭＩＢＧ对诊断嗜铬细胞瘤具有高的敏感性和特异性，并兼有定位及定性诊断价值     

单纯家族性嗜铬细胞瘤一家系报告并文献复习

目的 探讨单纯家族性嗜铬细胞瘤的遗传和临床特征.方法 回顾分析1例单纯家族性嗜铬细胞瘤青少年患者的临床资料,并调查该家系发病情况,绘制家族发病图谱.结果 该家系三代人中有3例嗜铬细胞瘤,均在青少年期发病,发病部位均为肾上腺.均采用肾上腺肿物切除术治疗.1例术后发生对侧肿瘤复发,病理诊断均为良性嗜铬细胞瘤,随访1～29年无复发.结论 单纯家族性嗜铬细胞瘤符合常染色体显性遗传特点,多在青少年期发病.对青少年疑似患者进行候选基因突变检测有助于该病的早期诊断.     

以少见表现为首发症状的9例嗜铬细胞瘤临床分析

目的：探讨以少见表现为首发症状的的嗜铬细胞瘤的临床特点.方法：回顾性分析经手术病理证实为嗜铬细胞瘤并具有特殊临床表现的9例患者的临床资料结果：2例患者术前诊断为急性冠脉综合征;2例患者术前诊断休克;1例患者术前诊断为糖尿病酮症酸中毒;4例患者术前诊断为视神经炎.所有患者均有高血压.影像学检查均发现肾上腺占位病变,均经手术病理证实为肾上腺嗜铬细胞瘤,术后症状好转.结论：嗜铬细胞瘤表现多样化,高血压是重要的诊断线索,实验室及影像学检查对明确诊断有重要意义.     

家族性嗜铬细胞瘤(附二例报告)

嗜铬细胞瘤是起源于肾上腺髓质、交感神经节及其它部位的嗜铬组织的肿瘤,高血压是其主要特点,属继发性高血压的一种类型.约80～90%肿瘤位于肾上腺髓质,10%为双侧性,10%左右有家族史.我院近20年来收住40多例嗜铬细胞瘤患者,其中2例为家族性,现报告如下:     

家族性嗜铬细胞瘤两家系4例报告

本院临床及病理确诊嗜铬细胞瘤40例,其中4例为家族性,系两家族同胞姐弟和姐妹发病,年龄16～30岁(平均23.7),两家患者之父均患高血压,分别于     

严重发作性高血压-伪嗜铬细胞瘤的治疗

目的报道严重发作性高血压-伪嗜铬细胞瘤的治疗。方法总结一组酷似嗜铬细胞瘤的严重发作性高血压：伪嗜铬细胞瘤,男女各两例,平均年龄42.50±8.06岁,归纳其临床特点。结果伪嗜铬细胞瘤具有嗜铬细胞瘤的类似症状：①突然血压升高、②伴随躯体不适症状。伪嗜铬细胞瘤区别于嗜铬细胞瘤及其他高血压之处：①无儿茶酚胺代谢物指标升高。②并非由情感因素直接引起,多数患者具有创伤史或消极的对应方式,③排除嗜铬细胞瘤及酷似嗜铬细胞瘤症状体征的疾患。④β、α1受体阻滞剂、心理治疗必要时联合抗抑郁药、抗焦虑药有效。结论伪嗜铬细胞瘤有别于嗜铬细胞瘤及一系列酷似嗜铬细胞瘤的临床情况,β、α1受体阻滞剂、心理治疗必要时联合抗抑郁药、抗焦虑药有效。     

心脏嗜铬细胞瘤的诊断与治疗

为了提高对心脏嗜铬细胞瘤的认识，现将国外报道的心脏嗜铬细胞瘤诊断和治疗方面的相关知识，结合近几年我院收治4例心脏嗜铬细胞瘤的诊治经验，加以归纳、总结，希望对临床工作有所帮助。     

家族性肾上腺外嗜铬细胞瘤

嗜铬细胞瘤起源自肾上腺髓质的嗜铬细胞或其它嗜铬组织。约98％的嗜铬细胞瘤位于腹部,2％在颈和胸部。约90％的腹部嗜铬细胞瘤在肾上腺内,余者在沿着腹主动脉或其主要分支的椎旁交感神经节、膀胱壁或沿着精索。 10％的嗜铬细胞瘤为家族性,它与下述肿瘤形成有关:①多发性神经纤维瘤;②Sipple氏综合征,即2a型多发性内分泌肿瘤;③2b型多发性内分泌肿瘤;④Hippel-Lindan病(视网膜血管瘤和小脑的囊性成血管细胞瘤)。有一些家族性嗜铬     

家族性嗜铬细胞瘤(附二例报告)

嗜铬细胞瘤是起源于肾上腺髓质、交感神经节及其它部位的嗜铬组织的肿瘤 ,高血压是其主要特点 ,属继发性高血压的一种类型。约 80～ 90 %肿瘤位于肾上腺髓质 ,1 0 %为双侧性 ,1 0 %左右有家族史。我院近 2 0年来收住 40多例嗜铬细胞瘤患者 ,其中 2例为家族性 ,现报告如下 :例 1 :男 ,32岁。住院号 :6 1 35 4。 1 4年前 (1 8岁时 )开始发作性头晕、头痛伴呕吐、大汗、心悸 ,面色苍白 ,血压高达 2 6 0～30 0 / 1 6 0～ 2 2 0 mm Hg,在我院诊为嗜铬细胞瘤 ,行手术治疗 ,病理证实双侧肾上腺嗜铬细胞瘤 ,术后症状消失 ,血压恢复正常 ,保持在 1 2…     

93例嗜铬细胞瘤临床分析

回顾分析瑞金医院1998年至2003年所有病理诊断为嗜铬细胞瘤的93例患者的临床表现、生化检查、影像学诊断。临床上有三联症状(头痛、心悸、多汗)之一的占77.4%;表现为极不稳定性高血压或难治性高血压的占78.5%,18.3%无临床表现,认为是无症状嗜铬细胞瘤。生化诊断阳性率59.6%;B超检查阳性率为97.8%;CT或MRI检查阳性率为97.1%;131碘标记间碘苄胍放射性核素扫描阳性率83.3%。本研究显示尚无一项检查能单独明确诊断嗜铬细胞瘤,将生化、影像学检查结合是术前诊断所必需,而手术后病理学检查是确诊嗜铬细胞瘤的依据。     

p16基因启动子区甲基化在人嗜铬细胞瘤和副神经节瘤中的变化

目的 检测嗜铬细胞瘤(PHEO)和副神经节瘤(PGL)中p16基因突变和启动子区DNA甲基化改变,分析其与患者临床特征之间的关系.方法收集34例(PHEO 20例、PGL14例)组织标本及患者临床资料,通过甲基化特异性PCR(MSP)测定p16基因启动子区甲基化状态,DNA测序检测基因序列以及RT-PCR方法测定其mRNA表达.结果 (1)34例肿瘤组织中未发现p16基因纯合缺失及点突变;(2)35.3%(12/34)的患者存在p16基因高甲基化,p16基因甲基化阳性标本中,PHEO和PGL分别占25%和75%,两者差异有统计学意义(P=0.005);p16基因甲基化在恶性、单发肿瘤、发病年龄早的亚组中有增高趋势(P＞0.05);(3)甲基化与非甲基化肿瘤组织之间p16 mRNA表达无统计学差异;不同特点的肿瘤中其mRNA表达亦无统计学差异,但恶性肿瘤p16 mRNA表达与良性肿瘤相比有下降的趋势(0.83±0.65对1.12±0.81,P=0.278).结论人PHEO和PGL中,p16基因纯合缺失和突变并不常见,但p16基因启动子区甲基化是其失活的主要形式.     

哌唑嗪在嗜铬细胞瘤的临床作用

本文观察应用哌唑嗪于18例嗜铬细胞瘤(PHEO)患者的术前准备,结果患者手术过程顺利,未见明显副作用。对16例PHEO及一组非PHEO高血压的患者进行口服单剂量哌唑嗪降压效应的观察,发现PHEO高血压患者对首剂小剂量哌唑嗪有高度的敏感性,提示其可作为PHEO的诊断性试验之一。     

Myocardial infarction in a 30-year-old patient with pheochromocytoma and type 1 neurofibromatosis

Chromaffinoma of the adrenal medulla (pheochromocytoma--PHEO) is a rare cause of arterial hypertension which is diagnosed incidentally or run in a family as a component of disease syndromes of the genetic origin. PHEO is diagnosed in about 5-10% of patients with type 1 neurofibromatosis (NF1). In a patient group with diagnosed arterial hypertension and NF1, PHEO is diagnosed with a much higher frequency, i.e. 20-56%. Myocardial injury in a patient without coronary risk factors is very rare. Increased circulating levels of catecholamines in patients with chromaffinoma may cause damage to myocardium without any atherosclerotic lesions in the coronary arteries. A correct diagnosis of PHEO allows the right treatment to be administered. The present paper discusses the case of a patient with NF1 and periodic arterial hypertension in the course of unidentified chromaffinoma, which was complicated with myocardial infarction. The evaluation of the secondary arterial hypertension led to the detection of the adrenal tumor. Based on the clinical presentation and the tumor characteristics, on computed tomography, PHEO was suspected. The level of methoxycatecholamines in a 24-hour urine sample significantly exceeded the reference values. The patient underwent laparoscopic, right-sided adrenalectomy, and the histopathological examination definitely concurred with the diagnosis of PHEO. During the post-surgical period, the arterial hypertension normalized without the administration of hypotensive drugs. The patient is still cared for by the clinic. The diagnosis toward PHEO is recommended if the patient with NF1 shows arterial hypertension. Proper diagnosis and treatment protects the patient against life-threatening cardiovascular complications.     

Cardiac disease in systemic lupus erythematosus: prospective study of 70 patients.

A prospective two dimensional and Doppler echocardiographic study of 70 consecutive patients with systemic lupus erythematosus (SLE) and 40 controls was carried out. Forty patients (57%) were found to have echocardiographic disturbance. Valvular abnormalities were detected in 31 patients (44%) and in only two controls (5%). Mitral valve abnormalities were the most common findings (23/70 (33%)) with mild or moderate regurgitation the most frequent lesion (16% and 9% respectively). Three patients (4%) had a morphological echocardiographic pattern suggestive of non-infective verrucous vegetations affecting the mitral valve. No patient had haemodynamically significant clinical valve disease. Pericardial effusion was identified in 19 patients (27%), of whom 14 had mild and clinically silent disease. Myocardial abnormalities were found in 14 patients (20%), but clinical features of myocardial dysfunction were present in only one. Patients with antiphospholipid antibodies were found to have an increased prevalence of endocardial lesions, mainly valvular regurgitation. It is concluded that the inclusion of echocardiography in a study protocol of patients with SLE can identify an important subset of patients with cardiac abnormalities, many of which are clinically silent. In addition, the association of antiphospholipid antibodies with endocardial lesions suggests that these antibodies may have a prominent role in the pathogenetic mechanisms of heart valve disease in SLE.     

Prevalence and incidence of intracranial haemorrhage in a population of children with haemophilia

The prevalence of intracranial haemorrhage (ICH) in our population of haemophiliacs was 12%. The incidence of ICH was approximately 2% per year. At entry, 7% (21/309) had clinical histories of ICH without MRI evidence of old haemorrhage, indicating that either the haemorrhages had completely resolved, that routine MRI sequences are not particularly sensitive for the detection of old blood products, or a combination of both of these factors. One half (4/8) of the ICHs documented by entry MRI were clinically silent, and three of the 11 incident cases documented by MRI were clinically silent. HIV infection did not increase the risk of ICH.     

Thyroid ultrasonography related to clinical and laboratory findings in patients with silent thyroiditis.

We summarized the clinical course of 10 patients with silent thyroiditis and evaluated the clinical usefulness of ultrasonography, in combination with clinical and laboratory findings, for the differentiation from Graves' disease. Serum T3 and T4 were increased in all cases, and the ratio of T3/T4 (ng/micrograms) was 17.8 +/- 3.6 (SD). But in 3 of 10 patients the ratio was greater that 20. TSH receptor antibody (TRAb) and thyroid stimulating antibody (TSAb) were negative in all cases. The estimated thyroid volume by ultrasonography was 18.4 +/- 5.5 ml, which was slightly increased but significantly lower than those in Graves' disease (p less than 0.05). The internal texture of the thyroid showed a decreased echogenicity with a mean echo level of 70.4 +/- 15.4. There was a weak positive correlation between the echo level at the onset of thyrotoxicosis and the lowest T3 level during the clinical course (p less than 0.05). It is suggested that ultrasonography gives a useful information to the diagnosis and outcome of patients with silent thyroiditis.     

Clinical and brain magnetic resonance imaging follow-up after percutaneous closure of patent foramen ovale in patients with cryptogenic stroke

Patent foramen ovale (PFO) closure is reported to result in fewer episodes of clinically manifest recurrent cerebral ischemia than medical treatment. We evaluated by means of magnetic resonance imaging (MRI) whether silent cerebral ischemic episodes are also decreased by PFO closure. Seventy-one patients with PFO were selected for percutaneous closure of PFO at our center. All had PFO with large right-to-left shunt documented by transcranial Doppler ultrasound and transesophageal echocardiography, > or =1 previous stroke or transient ischemic attack with MRI documentation at the index event, and no alternative cause for cerebral ischemia. MRI studies were performed in all patients 24 hours before the procedure and at 1-year follow-up (or before in the case of a suspected new neurologic event). Eight patients (11%) had >1 clinical event before the procedure. Comparing the 2 MRI studies before the procedure, silent ischemic lesions were observed in 14 other patients (20%). Thus, considering clinical and silent events together, >1 event was present at baseline in 22 patients (31%). After PFO closure (follow-up 16 +/- 7 months), 1 recurrent neurologic event occurred (1%, p = 0.02 vs preprocedural clinical events); however, urgent brain MRI results were negative. Moreover, only 1 patient showed 1 new silent lesion at brain MRI at follow-up (1%, p <0.001 vs preprocedural silent brain lesions). Considering clinical and silent events, relapses occurred in 2 patients only (p <0.001 vs before procedure). Recurrent events were limited to those with incomplete PFO closure at postprocedural transcranial Doppler ultrasound (p = 0.02). In conclusion, percutaneous PFO closure results in few clinical or silent events after 1-year follow-up, especially when complete PFO closure is successfully accomplished.     

动态心电图监测老年冠心病无症状心肌缺血的意义

目的:探讨24小时动态心电图(Holter)对老年冠心病患者无症状心肌缺血(SMI)的检出情况。方法:回顾分析我院门诊及住院336例老年冠心病患者的临床情况和Holter资料。结果:(1)常规心电图检出心肌缺血106例(31.55％),Holter检出心肌缺血220例(65.48％);SMI发生率为69.09％,有症状心肌缺血发生率为30.91％;(2)SMI发作有明显生物节律,以清晨6-12时发作频率最高;(3)SMI发作时心率减慢的比例明显低于有症状心肌缺血的(P<0.005);(4)SMI的心律失常检出率为93.4％。结论:Holter可早期发现老年人的无症状心肌缺血,有重要价值。     

Modification of hormonal secretion in clinically silent pituitary adenomas

Background Silent pituitary adenomas are a subtype of adenomas characterized by positive immunoreactivity for one or more hormones classically secreted by normal pituitary cells but without clinical expression, although in some occasions enhanced or changed secretory activity can develop over time. Silent corticotroph adenomas are the classical example of this phenomenon. Patients and Methods A series of about 500 pituitary adenomas seen over a period of 20 years were screened for modification in hormonal secretion. Biochemical and immunohistochemical data were reviewed. Results Two cases were retrieved, one silent somatotroph adenoma and one thyrotroph adenoma, both without specific clinical features or biochemical abnormalities, which presented 20 years after initial surgery with evidence of acromegaly and hyperthyroidism, respectively. While the acromegaly was controlled by a combination of somatostatin analogs and growth hormone (GH) receptor antagonist therapy, neurosurgery was necessary to manage the thyrotroph adenoma. Immunohistochemical examination demonstrated an increase in the number of thyroid stimulating hormone (TSH)-immunoreactive cells compared to the first tissue. Apparently, the mechanisms responsible for the secretory modifications are different, being a change in secretory capacity in the silent somatotroph adenoma and a quantitative change in the silent thyrotroph adenoma. Conclusions These two cases, one somatotroph and one thyrotroph adenoma, are an illustration that clinically silent pituitary adenomas may in rare circumstances evolve over time and become active, as previously demonstrated in silent corticotroph adenomas.     

Use of 6-[18F]-fluorodopamine positron emission tomography (PET) as first-line investigation for the diagnosis and localization of non-metastatic and metastatic phaeochromocytoma (PHEO)

Objective Imaging modalities available for the localization of phaeochromocytoma (PHEO) include computed tomography (CT), magnetic resonance imaging (MRI), [¹²³I]‐ or [¹³¹I]‐labelled metaiodobenzylguanidine (^123/131I‐MIBG) scintigraphy and 6‐[¹⁸F]‐fluorodopamine (¹⁸F‐FDA) positron emission tomography (PET). Our aim was to investigate the yield of ¹⁸F‐FDA PET vs. biochemical testing and other imaging techniques to establish the diagnosis and location of PHEO. Patients and measurements The study included 99 consecutive patients (35 Males, 64 Females, mean ± SD age 46·4 ± 13·4 years), who underwent ¹⁸F‐FDA PET, biochemical testing (plasma catecholamines and free metanephrines) and CT and/or MRI. The majority (78%) also underwent ^123/131I‐MIBG. Results In total 26 patients had non‐metastatic PHEO, 34 patients had metastatic PHEO, and PHEO was ruled out in 39 patients. Investigations to rule out or confirm PHEO yielded the following sensitivity/specificity: plasma metanephrines 97/95%, ¹⁸F‐FDA 92/90%, ¹²³I‐MIBG 83/100%, ^123/131I‐MIBG 70/100%, CT 100/41%, MRI 98/60%. Sensitivities for localizing non‐metastatic PHEO on a per‐lesion base were: CT 97%, MRI 92%, ¹⁸F‐FDA 78%, ¹²³I‐MIBG 78% and ^123/131I‐MIBG 76%. Sensitivities for detecting metastases on a per‐patient base were: CT and MRI 100%, ¹⁸F‐FDA 97%, ¹²³I‐MIBG 85% and ^123/131I‐MIBG 65%. Conclusion For tumour localization, ¹⁸F‐FDA PET and ^123/131I‐MIBG scintigraphy perform equally well in patients with non‐metastatic PHEO, but metastases are better detected by ¹⁸F‐FDA PET than by ^123/131I‐MIBG.