1例多发性内分泌肿瘤伴抑郁症患者的护理

报告 1 例多发性内分泌肿瘤伴抑郁症患者的护理过程。 依托多学科团队实施照护方案：术前有效控制低血钾、低血糖、高血压;采用认知重构联合负性情绪管理策略改善抑郁症状;严密防范骨质疏松性骨折后再骨折;术后及时发现和处理肾上腺危象、乳糜瘘等并发症。 术后 21d 康复出院,做好长期随访管理和家族筛查。     

B超对多发性内分泌肿瘤的诊断价值

本文报告了１６例多发性内分泌肿瘤Ｂ超检查结果。肿瘤检出率８６．２％。甲状旁腺增生或甲状腺髓样癌经常是首先发生或与其它肿瘤同时发现，高频探头结合彩色多普勒超声检查是诊断甲状旁腺增生和甲状腺髓样癌首选方法。定期对多发性内分泌肿瘤患者及其家庭成员进行Ｂ超检查可及早对新的内分泌肿瘤做出诊断。     

2A 型多发性内分泌腺瘤病超声表现

目的总结2A型多发性内分泌腺瘤病(MEN)的超声声像图特征.方法回顾性分析解放军第一一七医院经基因检测均为Ret第11号外显子C634Y突变的12个家族中的57例2A型MEN患者甲状腺及肾上腺超声表现.所有患者均经病理证实.结果57例2A型MEN患者单侧或双侧甲状腺均可见单发或多发低回声或混合性回声结节,18例合并肾上腺单侧或双侧单发或多发低回声或混合性占位.经手术病理或超声引导穿刺活检证实单侧或双侧甲状腺髓样癌51例(89.5%),甲状腺髓样癌并甲状腺乳头状癌4例(7.0%),甲状腺C细胞增生2例(3.5%),淋巴结转移4例(7.1%),单侧或双侧肾上腺嗜铬细胞瘤18例(31.6%).结论2A型多发性内分泌腺瘤病超声表现具有特异性,超声检查可早期提示此病.     

子宫神经内分泌癌超声表现1例

患者女,34岁,以右下腹痛20天、发现盆腔包块半天为主诉入院.平素体健,38天前因过期流产行清宫术,术后B超见子宫肌层内3 cm×3 cm团块状弱回声,疑为子宫肌瘤.     

家族性多发性内分泌肿瘤的超声分析

多发性内分泌腺瘤（MEN）是一种由两个或多个内分泌腺体发生增生或肿瘤而产生的临床综合征,是常染色体显性遗传病,常呈家族性发病。由于受累腺体发病往往不同步,患者就诊时易被当成散发人群对待,贻误家族中其他的隐性患者。我院对1例MENⅡ型的患者进行检查后,又对其弟进行筛查从而发现一例隐匿的MENⅡ型患者。现报道如下。     

多发性内分泌瘤病2A型1例报告并文献复习

目的讨论1例甲状腺带瘤12 a多发性内分泌腺瘤病2A（MEN2A）的特点。方法收集患者临床、检验、影像、病理资料。结果降钙素明显升高,B超/CT提示多发小占位伴钙化。组织结构中见大量淀粉样物,免疫组化检查支持诊断。病理证实为MEN2A型双侧甲状腺髓样癌。肿瘤生长多年淋巴结未转移。结论家族倾向,该病发展缓慢、双侧、多发、腺内播散,呈现髓样癌的特点。广泛收集各种临床资料,进行基因筛查对早期发现、诊断和治疗该病具有指导意义。病理检查是诊断的最终依据,手术治疗是目前最有效的方法。     

胰腺神经内分泌肿瘤超声表现

目的 观察胰腺神经内分泌肿瘤的常规超声表现及CEUS特征。方法 回顾性分析我院经手术病理证实的90例胰腺神经内分泌肿瘤的常规超声表现及CEUS表现。结果 90例均接受常规超声、15例接受CEUS检查。90例中,单发肿瘤85例,多发5例;肿瘤位于胰头41例,胰体13例,胰尾36例。二维超声显示低回声81例,囊实混合回声8例,无回声1例,最大径0.80~12.50 cm。67例肿瘤边界清楚,23例边界不清;64例肿瘤形态规则,26例形态不规则。CDFI示35例病灶血流信号丰富。主胰管增粗14例（14/90,15.56%）。15例接受CEUS,其中9例肿瘤动脉期呈高增强,延迟期呈稍高或等增强;4例动脉期呈稍高增强,延迟期呈低增强;2例动脉期周边呈稍低增强,延迟期廓清,内部可见片状不增强区。结论 胰腺神经内分泌肿瘤常规超声多表现为边界清楚、形态规则的低回声团块,CEUS以动脉期均匀高增强、实质期无明显消退为主要特征。     

多发性内分泌腺瘤病2A型(MEN2A)中嗜铬细胞瘤的临床特点及治疗

目的 分析多发性内分泌腺瘤病2A型(MEN2A)家系中嗜铬细胞瘤患者的临床特点,并探讨其治疗方法 方法 收集3个MEN2A家系,共有8例MEN2A患者均患有嗜铬细胞瘤,分析这8例患者高血压特点、24 h尿VMA及肾上腺CT结果 、嗜铬细胞瘤患病情况及治疗方法 结果 8例MEN2A患者中7例有甲状腺髓样癌(87.5%),8例有嗜铬细胞瘤(100%),没有发现有HPT的发生,其中6例(75%)患者是以嗜铬细胞瘤起病,而且嗜铬细胞瘤中7例(87.5%)为双侧.8例患者中3例(37.5%)为持续性高血压,5例(62.5%)为阵发性发作高血压,6例(75%)24 h尿VMA升高,2例(25%)高血压发作时尿VMA/Cr比值明显升高.4例患者经腹腔镜切除肿瘤,4例经开腹手术切除肿瘤,随诊7例(87.5%)良性嗜铬细胞瘤患者术后随诊均未见肿瘤复发.结论本研究结果 提示MEN2A中嗜铬细胞瘤常为双侧,临床可表现为持续性高血压也常有阵发性高血压者,生化及影像学检查有助于诊断,RET基因的突1变检测能使MEN2A中嗜铬细胞瘤得到早期诊治,腹腔镜下手术是MEN2A中嗜铬细胞瘤治疗的理想方法     

多发性内分泌腺瘤病2A型（MEN2A）中嗜铬细胞瘤的临床特点及治疗

目的分析多发性内分泌腺瘤病2A型（MEN2A）家系中嗜铬细胞瘤患者的临床特点,并探讨其治疗方法。方法收集3个MEN2A家系,共有8例MEN2A患者均患有嗜铬细胞瘤,分析这8例患者高血压特点、24h尿VMA及肾上腺CT结果、嗜铬细胞瘤患病情况及治疗方法。结果8例MEN2A患者中7例有甲状腺髓样癌（87．5％）,8例有嗜铬细胞瘤（100％）,没有发现有HPT的发生,其中6例（75％）患者是以嗜铬细胞瘤起病,而且嗜铬细胞瘤中7例（87．5％）为双侧。8例患者中3例（37．5％）为持续性高血压,5例（62．5％）为阵发性发作高血压,6例（75％）24h尿VMA升高,2例（25％）高血压发作时尿VMA／Cr比值明显升高。4例患者经腹腔镜切除肿瘤,4例经开腹手术切除肿瘤,随诊7例（87．5％）良性嗜铬细胞瘤患者术后随诊均未见肿瘤复发。结论本研究结果提示MEN2A中嗜铬细胞瘤常为双侧,临床可表现为持续性高血压也常有阵发性高血压者,生化及影像学检查有助于诊断,RET基因的突变检测能使MEN2A中嗜铬细胞瘤得到早期诊治,腹腔镜下手术是MEN2A中嗜铬细胞瘤治疗的理想方法。     

Multiple endocrine neoplasia type 1 with refractory hypoglycemia and lung and liver metastases: a case report

BackgroundMultiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant genetic disease. MEN1 with multiple endocrine adenomatosis complicated by multiple endocrine tumors is often misdiagnosed or missed. Herein, we describe the first reported case of refractory hypoglycemia and liver and lung metastases in a patient with MEN1.Case presentation: A 40-year-old man presented with a 3-month history of intermittent palpitations, fatigue, and sweating. The patient had a history of prolactinoma resection and refractory hypoglycemia 2 years earlier. Analyses of blood samples showed a decrease in random and fasting blood glucose and an increase in prolactin (PRL). Computed tomography (CT) and magnetic resonance imaging scans revealed two substantial masses in the pancreas and large masses in the liver and lung. Positron emission tomography-CT images showed hypermetabolic masses in the pancreatic body and tail. The liver and lung lesions were also hypermetabolic. The pancreatic lesion was surgically removed, and pathology confirmed that the mass was MEN1. The liver and lung masses were confirmed as metastatic tumors.ConclusionIf clinicians better understand MEN1, they can obtain a detailed patient and family history during the initial visit, allowing earlier diagnosis and intervention and improved prognosis.     

小儿单侧多发肾母细胞瘤超声表现1例

患儿女,5岁,家长发现其肉眼血尿1周,为全程血尿,无尿频、尿急、尿痛,无寒战、高热.体格检查未见明显异常.超声:左肾下极见2个实性包块,分界清晰,肾盂、肾盏受压并向外突起,大小分别为4.3 cm×4.0 cm×3.5 cm和3.2 cm×2.9 cm×2.4 cm,较大者呈均质低同声,内见条带状无回声,较小者包块内部回声略低,分布不均匀.CDFI:包块内血供较差,周边可见血管环绕(图1～3).超声提示:左肾下极多发实性占位(肾母细胞瘤可能).遂行左肾切除术,术中见左肾增大,形态失常,下极呈不规则隆起,其内可见2个包块,包膜完整,较大者为均质红色肉瘤样组织,约4 cm×3 cm×3 cm,较小者为白色鱼肉样组织,约3 cm×2 cm×2 cm(图4).术后病理:肾母细胞瘤.     

多发性内分泌腺瘤病2A型家系临床特点分析及RET基因突变研究

目的检测互不相关的3个多发性内分泌腺瘤病2A型（MEN2A）家系中RET原癌基因突变情况，以探寻其发病的分子机制，同时总结其临床特点。方法收集3个MEN2A家系，共有8例MEN2A患者，3个家系有28位同意进行基因检测，提取28位外周血基因组DNA，对RET原癌基因21个外显子进行聚合酶链反应（PCR），PCR产物进行直接测序，对发现新的突变点进一步进行克隆测序。结果家系1RET原癌基因存在外显子11的C634R突变，家系2为C634Y突变，家系3的4例MEN2A患者均存在D631密码子（GAC）的杂合缺失，碱基序列由TGC∧GACGAGCTG变为TGCGAGCTG，导致代表天冬氨酸的D631的缺失，即del D631。8例MEN2A患者中7例有MTC（87．5％），8例有PCC（100％），未发现有HPT的发生，其中6例（75％）患者是以PCC起病，而且PCC中7例（87．5％）为双侧。结论本研究结果提示中国大陆MEN2A家系存在C634Y突变，也有exon11的D631杂合缺失突变，其中RET基因第11号外显子的D631缺失突变（delD631）是首例报道。D631 del临床特点为发病年龄较迟，肾上腺嗜铬细胞瘤可先于甲状腺髓样癌的发生。     

Early diagnosis of the multiple endocrine neoplasia type 2 syndrome: consensus statement

The diagnosis of medullary thyroid carcinoma by biochemical and genetic testing is possible in families with multiple endocrine neoplasia type 2. At an early stage total thyroidectomy usually cures the patient. As the clinical penetrance of the autosomal dominant, transmitted, multiple endocrine neoplasia type 2 gene is not complete, family screening is indicated for every new patient who presents with apparently sporadic medullary thyroid carcinoma. Problems related to a screening programme and early diagnosis have led the members of the European Community Concerted Action: Medullary Thyroid Carcinoma group to formulate a consensus on biochemical and genetic screening. For biochemical screening, measurement of basal and pentagastrin and/or calcium stimulated serum levels of calcitonin by radioimmunoassay are essential starting at the age of three and continuing annually until 35 years of age. Furthermore, annual screening for pheochromocytoma by measuring the urinary excretion of catecholamines and for hyperparathyroidism by serum calcium determination is indicated. Genetic screening using linked markers can be done with a 95% accuracy in informative families when DNA is available from at least two family members proven to be affected. Biochemical screening can thus be reserved for gene carriers, while those at low risk can be reassured. Combined biochemical and genetic screening for multiple endocrine neoplasia type 2 is important and effective for the cure of medullary thyroid carcinoma.     

Multiple organ failure and coma as initial presentation of pheochromocytoma in a patient with multiple endocrine neoplasia (MEN) type II A

The unusual case of a 65-year-old woman with intermittent hypotension, fever, pulmonary edema and coma as initial presentation of pheochromocytoma is reported. The patient developed respiratory, cardiac and renal failure, disseminated intravascular coagulation and liver dysfunction. She, had to be defibrillated on multiple occasions, occurring in periods of severe hypertension. After successful surgical removal of a pheochromocytoma a thyroid medullary carcinoma was detected. Several members of the patients family had presented with multiple endocrine neoplasia (MEN II).