肾上腺嗜铬细胞瘤自发破裂2例报告

目的探讨肾上腺嗜铬细胞瘤自发破裂的临床特点。方法分析2例肾上腺嗜铬细胞瘤自发破裂病例。结果B超、CT检查均提示肾上腺区肿瘤并破裂、肾周血肿。保守治疗后择期手术切除肿瘤，清除血肿。结论肾上腺嗜铬细胞瘤可能会发生自发破裂而出血，B超、CT检查有助于诊断。治疗常需手术切除肿瘤、清除血肿。     

肾上腺嗜铬细胞瘤白发性破裂1例报告并文献复习

目的：探讨肾上腺嗜铬细胞瘤自发破裂的临床病例特征,提高对肾匕腺嗜铬细胞瘤自发破裂的认识。方法：对1例肾上腺嗜铬细胞瘤自发破裂出血急诊患者的临床诊治及影像学特点结合相关文献进行分析。结果：以急腹症发病,表现为剧烈的腰、腹部疼痛伴高血压,同时有失血性休克表现;B超、CT检查提示肾上腺区肿瘤并破裂、肾周血肿。结论：肾上腺嗜铬细胞瘤可能会发生自发破裂而出血,B超、CT检查有助于诊断,治疗常需手术切除肿瘤、清除血肿。     

Ⅱb型多发性内分泌腺瘤1例报告并文献复习

目的：提高对Ⅱb型多发性内分泌腺瘤（MEN－Ⅱb）的认识。方法：总结1例MEN－Ⅱb的诊治经验,并结合文献进行讨论。结果：B超、CT检查发现嗜铬细胞瘤并甲状腺肿块及皮肤粘膜神经纤维瘤;行嗜铬细胞瘤切除术及双侧叶甲状腺肿瘤切除并淋巴清扫术,术后随访2个月,效果良好。结论：本病的早期诊断有赖于提高认识,选择适当的内分泌及影像学检查,并作严密的家系调查：如嗜铬细胞瘤并发其他肿瘤,宜先行嗜铬细胞瘤切除术,然后再处理其他肿瘤。是否全切双侧肾上腺应依具体情况而定。     

多发性内分泌腺瘤2A的诊治(附2例报告)

目的　提高对多发性内分泌腺瘤2A(MEN2A)的认识及诊治水平。方法　总结 2 例 MEN2A的诊治经验,并结合文献进行讨论。结果　B超、CT、MRI及131I 间 碘苄胍(MIBG)检查发现甲状腺肿块及嗜铬细胞瘤,血清降钙素及血、尿儿茶酚胺测定异常;例1 行嗜铬细胞瘤切除及甲状腺全切并淋巴结清扫术,随诊至今无复发;例 2 行双侧嗜铬细胞瘤切除及甲状腺穿刺活检术,术后随访9个月,效果良好。结论　行内分泌及影像学检查可诊断此病,肾上腺嗜铬细胞瘤切除及甲状腺全切并淋巴结清扫术是治疗的主要手段,高危家族的基因检测筛选及早期手术是治愈本病的关键。     

多发性内分泌腺瘤2A的诊治(附2例报告)

目的:提高多发性内分泌腺瘤2A(MEN2A)的认识及诊治水平.方法:总结2例MEN2A的诊治经验,并结合文献进行讨论.结果:B超、CT、MRI及131I-间碘苄胍(MIBG)检查发现甲状腺肿块及嗜铬细胞瘤,血清降钙素及血、尿儿茶酚胺测定异常;1例行嗜铬细胞瘤切除及甲状腺全切并淋巴结清扫术,1例行双侧嗜铬细胞瘤切除及甲状腺穿刺活检术.结论:行内分泌及影像学检查可诊断此病,肾上腺嗜铬细胞瘤切除及甲状腺全切并淋巴结清扫术是治疗的主要手段,高危家族的基因检测筛选及早期手术是治愈本病的关键.     

多发性内分泌腺肿瘤患者嗜锭细胞瘤的处理

多发性内分泌腺肿瘤(MEN)患者中,有甲状腺髓样癌(MTC)、嗜铬细胞瘤及甲状旁腺机能亢进者为MEN2A型.MAEN2B型者则无甲状旁腺机能亢进症,但常伴有多发性神经节瘤.两型患者的肾上腺髓质病变常为两侧同时存在.在嗜铬细胞瘤形成前,均有弥漫性或结节性的肾上腺髓质增生.因此,有人认为不论MEN2A型或2B型,即使嗜铬细胞瘤仅存在于一侧腺体,也应作双侧肾上腺切除术.其理由是:①MAEN2A及2B型息者的肾上腺髓质病变常为两侧性的;②嗜铬细胞瘤也常为双侧性的;③肾上腺病变的井发症率与死亡率均甚高;④嗜铬细胞瘤可能为恶性;⑤肾上腺功能不足(阿狄森氏病)危害性较小.但也有相反意见.作者在1956～1990年间共收集了53例因嗜铬细胞瘤行肾上腺切除的病例.其中49例为MEN2A型,9例MEN2B型.女33例,男25例(女:男=1.31).本组病例首次手术时的年龄为32.8士1.6岁(4.8～63.7岁).MEN2B型者首次手术时年龄明显     

多发性内分泌肿瘤2型的诊断和外科处理

目的 探讨多发性内分泌肿瘤2型（multiple endocrine neoplasia,MEN2）的诊断和外科处理方法.方法 回顾性研究1997年6月至2006年6月我院诊断和治疗的MEN2患者28例的临床资料.结果 MEN2a型25例,其中23例分属7个家系,均有RET基因11外显子634编码子突变;MEN2b型3例,无家族史,为RET基因16外显子918编码子突变.MEN2a型中22例有甲状腺肿物伴降钙素升高,其中17例经病理证实为甲状腺髓样癌;12例合并嗜铬细胞瘤,其中5例为多发性,2例恶性;5例合并甲状旁腺功能亢进症,3例无临床症状及生化改变.3例MEN2b型均为甲状腺髓样癌合并黏膜神经瘤病和马凡样体形,其中1例伴双侧肾上腺嗜铬细胞瘤.MEN2a型中12例接受双侧甲状腺全切除＋双侧颈淋巴清扫,5例行甲状腺肿物切除;甲状旁腺病变在甲状腺手术时一并处理;9例接受11次肾上腺肿瘤摘除术,3例为双侧肾上腺手术.3例MEN2b型均行双侧甲状腺全切除＋双侧颈淋巴清扫.结论 MEN2型以甲状腺髓样癌为主要病变,基因筛查可帮助早期诊断.根治性甲状腺切除能预防和治疗甲状腺髓样癌.     

多发性内分泌肿瘤1例报告

病人男性 ,3 1岁。 1996年因阵发性高血压 ,伴有剧烈头痛、头晕 ,皮肤、面色苍白等症状 ,在外院诊断为双侧肾上腺嗜铬细胞瘤。于 1996及 1997年在该院分别作左、右侧肾上腺嗜铬细胞瘤切除。术后均经病理检查确诊。 2 0 0 3年 4月体检发现左侧肾上腺嗜铭细胞瘤复发 ,并有双侧甲状腺结节性肿。 2 0 0 3年 4月行腹腔镜左侧肾上腺全切除术。术后证实为左侧肾上腺嗜铬细胞瘤复发。同年 5月到我院就医 ,入院后经检查拟诊为多发性内分泌肿瘤Ⅱ型 ,行双侧甲状腺全切除术 +颈淋巴结切除。术后病理检查为双侧甲状腺髓样癌并颈淋巴结转移、左侧甲状旁腺…     

多发性内分泌性腺瘤病Ⅱa和Ⅱb型

多发性内分泌性腺瘤病(MEA),系指在脑垂体前叶、甲状旁腺、胰岛及更少见者如肾上腺皮质、甲状腺和卵巢,同时产生的腺瘤样病变。卓-艾氏综合征(Z-E Syndrome)即属此类。为了与另一组多发性内分泌性腺瘤病相区别,将其称为多发性内分泌性腺瘤病Ⅰ型(MEA-Ⅰ)。另一类家族性的多发内分泌腺瘤病,包括甲状腺髓样癌、嗜铬细胞瘤(常常是双侧性)、甲状旁腺增生以及舌唇的多发性神经瘤,这一类综合征称为多发性内分泌性腺瘤病Ⅱ型(MEA-Ⅱ),亦称Sipple氏综合征。多发性内分泌性腺瘤病Ⅱa型(MEA-Ⅱa)包括甲状腺髓样癌;嗜铬细胞瘤(常常多发);经常有甲状旁腺增生。多发性内分泌性腺瘤病Ⅱb型(MEA-Ⅱb)包括甲状腺髓样癌;舌或唇的神经瘤;常有嗜铬细胞瘤;马凡氏样表现(marfanoid appearance);甲状旁腺正常。     

131I-MIBG肾上腺髓质扫描对嗜铬细胞瘤的诊断价值

目的：评价^131I—MIBG肾上腺髓质扫描在嗜铬细胞瘤的诊断价值。方法：16例患者术前均经B超检查及^131I—MIBG肾上腺髓质扫描，10例术前行CT检查。结果：14例患者经^131I—MIBG肾上腺髓质扫描直接提示病灶部位核素浓聚，其中包括6例血压正常或临界正常患者。B超检查提示嗜铬细胞瘤不能排除诊断5例，CT检查提示嗜铬细胞瘤可能4例。本组^131I-MIBG肾上腺髓质扫描敏感性87．5％，特异性100％。结论：^131I-MIBG肾上腺髓质扫描对嗜铬细胞瘤的诊断价值在于其可直接反映可疑肿瘤的嗜铬性质，具有高效、可靠的优点，应作为嗜铬细胞瘤的首选功能性诊断手段。     

多发性内分泌肿瘤2b型(附一例报告并文献复习)

目的：提高对2b型多发性内分泌肿瘤（MEN2b)的认识,探讨其诊治方法。方法：诊治1例MEN2b病人。该病人同时患有双侧嗜铬细胞瘤、双侧甲状腺髓样癌、多发性粘膜神经瘤、先天性巨结肠、骨骼系统变等。行嗜铬细胞瘤切除术及甲切状腺切除、颈淋巴清除术。进行家系调查,结合文献进行讨论。结论：术后恢复良好,仅口服补充甲状腺激素,随访5个月效果良好。结论：提高认识、选择适当的检查是诊断MEN2b的关键。家系调查和基因诊断很有必要。宜先行嗜铬细胞瘤切除后再处理其他肿瘤。对各发病腺体的处理方式依具体情况而定。     

Primary retroperitoneal carcinoid tumor associated with multiple endcrine neoplasia (men) type 1: a case report

We report an extremely rare case of a 69-year-old man having a retroperitoneal carcinoid tumor associated with multiple endocrine neoplasia (MEN) type 1. The patient whose son and daughter were previously diagnosed with MEN type 1 was admitted to the Department of Endocrinology at our hospital for evaluation of this disorder. Computed tomography (CT) and ultrasonography revealed a parathyroid and retroperitoneal tumor (43 mm x 34 mm). The patient did not consent to surgical management of the tumor; however three years later, a follow-up CT revealed tumor enlargement (55 mm x 50 mm). We were unable to rule out a malignancy, and subsequently resected the tumor. A pathological diagnosis of retroperitoneal carcinoid was made. No local recurrence or metastasis have been observed for 21 months.     

多内分泌功能性嗜铬细胞瘤的临床诊治(附3例报告)

目的:探讨多内分泌功能性嗜铬细胞瘤的临床、病理、组织化学特性和诊治方法及预后。方法:回顾性分析3例多内分泌功能性嗜铬细胞瘤患者的临床资料,并结合文献复习就其诊治方法予以讨论。结果:1例行开放性右肾上腺肿瘤切除术,术后血压恢复正常,Cushing综合征表现明显减轻;1例行后腹腔镜下右肾上腺区肿物切除术,术后患者腹泻消失,定期复查血钾正常;另1例死于高血压危象。结论:多内分泌功能性嗜铬细胞瘤病因尚不明确,其中分泌促皮质激素表现为Cushing综合征者相对较多,但临床易漏诊误诊。正确的诊断思路和充分的实验室检查及术前准备是诊疗的关键;治疗方式上以后腹腔镜下或开放切除肾上腺肿瘤为主。     

Management of pheochromocytomas in patients with multiple endocrine neoplasia type 2 syndromes.

OBJECTIVE: The authors sought to determine the optimal surgical management of pheochromocytomas that develop in patients with multiple endocrine neoplasia (MEN) type 2 syndromes. SUMMARY BACKGROUND DATA: The performance of empirical bilateral adrenalectomy in patients with MEN 2A or MEN 2B, whether or not they have bilateral pheochromocytomas, is controversial. METHODS: The results of unilateral or bilateral adrenalectomy were studied in 58 patients (49 with MEN 2A and 9 with MEN 2B). Recurrence of disease was evaluated by measuring 24-hour urinary excretion rates of catecholamines and metabolites and by computed tomography (CT) scanning. RESULTS: The mean postoperative follow-up was 9.40 years. There was no operative mortality and malignant or extra-adrenal pheochromocytomas were not present. Twenty-three patients with a unilateral pheochromocytoma and a macroscopically normal contralateral gland underwent unilateral adrenalectomy. A pheochromocytoma developed in the remaining gland a mean of 11.87 years after the primary adrenalectomy in 12 (52%) patients. Conversely, 11 (48%) patients did not develop pheochromocytoma during a mean interval of 5.18 years. In the interval after unilateral adrenalectomy, no patient experienced hypertensive crises or other complications related to an undiagnosed pheochromocytoma. Ten (23%) of 43 patients having both adrenal glands removed (either at a single operation or sequentially) experienced at least one episode of acute adrenal insufficiency or Addisonian crisis, including one patient who died during a bout of influenza. CONCLUSIONS: Based on these data, the treatment of choice for patients with MEN 2A or MEN 2B and a unilateral pheochromocytoma is resection of only the involved gland. Substantial morbidity and significant mortality are associated with the Addisonian state after bilateral adrenalectomy.     

Multiple endocrine neoplasia syndromes

The multiple endocrine neoplasia (MEN) syndromes are rare autosomal-dominant conditions that predispose affected individuals to benign and malignant tumors of the pituitary, thyroid, parathyroids, adrenals, endocrine pancreas, paraganglia, or nonendocrine organs. The classic MEN syndromes include MEN type 1 and MEN type 2. However, several other hereditary conditions should also be considered in the category of MEN: von Hippel-Lindau syndrome, the familial paraganglioma syndromes, Cowden syndrome, Carney complex, and hyperparathyroidism jaw-tumor syndrome. In addition, researchers are becoming aware of other familial endocrine neoplasia syndromes with an unknown genetic basis that might also fall into the category of MEN. This article reviews the clinical features, diagnosis, and surgical management of the various MEN syndromes and genetic risk assessment for patients presenting with one or more endocrine neoplasms.     

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??The treatment experience for a new set of multiple endocrine neoplasia type 1 family LI Peng??ZHU Li-zhang??WEI Wei. Department of Thyroid Surgery ??Peking University Shenzhen Hospital, Shenzhen 518036??China
Corresponding author??WEI Wei??E-mail??rxwei1123@163.com
Abstract Objective To explore characteristics, diagnosis and treatment principles for the familial multiple endocrine neoplasia type 1 (MEN1). Methods The clinical manifestations, diagnosis, treatment and prognosis were analyzed for a group of familial MEN1 diagnosed in Peking University Shenzhen Hospital recently. Results 3 cases were diagnosed as MEN1 in a same family, and a new MEN1 gene mutation was detected by gene detection. All patients were given surgical treatment for hyperparathyroidism, and the parathyroid hormone levels were restored to normal a month later. Conclusion The diagnosis of familial MEN1 includes 3 aspects: clinical diagnosis, family history and gene diagnosis.Treatment plan requires multidisciplinary treatment options,The standard operation mode was subtotal parathyroidectomy or total parathyroidectomy plus autotransplantation for hyperparathyroidism, But there is still some controversy about early and young patients.     

Thick lips, bumpy tongue, and slipped capital femoral epiphysis--a deadly combination

Multiple endocrine neoplasia type 2b (MEN 2b) is a rare genetic disorder. Affected individuals have malignant thyroid tumors, pheochromocytoma, and ganglioneuromatosis. The musculoskeletal manifestations of MEN 2b include a Marfanoid habitus, pes cavus, scoliosis, slipped capital femoral epiphysis, joint laxity, poor muscle development, and delayed maturation. The initial clinical presentation of MEN 2b frequently involves the musculoskeletal system. The characteristics ganglioneuromatosis of the lips and tongue, however, should alert the orthopedic surgeon to the underlying disorder. Effective treatment of the malignant neoplasms hinges on early diagnosis. The risk of perioperative hypertensive crisis is significant; it may be prevented by appropriate treatment of the pheochromocytoma.