多发性内分泌腺瘤ⅡA家系及临床分析(附四例报告)  

A pedigree and clinical study of 4 cases of multiple endocrine neoplasia ⅡA

作　　者：张辉[1] 强万明[1] 高玉琪[2] 白人驹[3] 

机构地区：[1]天津医科大学总医院泌尿外科,300052 [2]天津医科大学总医院内分泌科,300052 [3]天津医科大学总医院放射科,300052

出　　处：《中华泌尿外科杂志》2000年第4期242-244,共3页Chinese Journal of Urology

摘　　要：目的　探讨多发性内分泌腺瘤ⅡA的家系及临床特点。　方法　回顾调查 1988～1998年收治此病 4例家系情况及临床资料。　结果　每个亲代不是完全发病甚至晚于子代发病 ,甲状腺髓样癌早于或同时于嗜铬细胞瘤发病 ,4例均为甲状腺髓样癌 +嗜铬细胞瘤 ,无甲旁亢。　结论　此种常染色体显性遗传病可出现外显不全 ,所累及腺体并不同时发病使临床症状复杂。血降钙素、尿VMA、甲状旁腺素测定 ,颈部及肾上腺区CT检查是诊断和随访此病的常规方法。Objective To investigate the pedigree and clinical features of multiple endocrine neoplasia ⅡA. Methods 4 cases of multiple endocrine neoplasia treated from 1988 to 1998 were surveyed retrospectively. Results The disease might not ocur in the parental generation or it might occur even later then their filial generation.Medullary thyroid carcinoma might occur simultaneously or intermittently in the two thyroid lobes and it might occur at the same time or earlier than the pheochromocytoma. Conclusions The autosomal dominant inheritance is often incomplete.The clinical feature is often complicated as the neoplasm in the concerned glands might not develop simultaneously.Assay of urine VMA and plasma calcitonin,CT scan of neck and adrenal areas are the routine methods for the diagnosis and follow up studies.

关 键 词：内分泌腺肿瘤 诊断 治疗 多发性 病例报告 

分 类 号：R736[医药卫生—肿瘤]