Tomassetti P, De Giorgio R, Bosoni D, Del Vecchio E, Migliori M, Stanghellini V, Corinaldesi R
Dipartimento di Medicina Interna e Gastroenterologia, Policlinico Sant'Orsola, Università degli Studi, Bologna.
Minerva Gastroenterol Dietol. 1996 Sep;42(3):133-43.
Multiple Endocrine Neoplasia type 1 (MEN 1) syndrome comprises tumors or hyperplasia of different glands, including parathyroid, pituitary, adrenal cortex and the gastroenteropancreatic system. The vast majority of MEN 1 are found in familial clusters, although a few cases are sporadic. Hypercalcemia and/or nephrocalcinosis are the first and most common clinical manifestation in familial MEN 1 syndrome, followed by islet cell tumors (especially those secreting gastrin or insulin) and pituitary dysfunction due to either functioning or non-functioning microadenomas. Genetic studies indicate that familial MEN 1 syndrome is inherited through a dominant gene with incomplete penetrance and variable expression. The diagnosis of MEN 1 syndrome is mainly based on the careful assessment of the clinical history, symptoms physical evaluation along with the assay of serum electrolytes (i.e., calcium, phosphorus, etc.) and hormonal substances (i.e., gastrin, insulin, pancreatic polypeptide, prolactin, adrenocorticotropic hormone, etc.). In addition, several provocative tests have been used to identify endocrine tumors (particularly those of the gastroenteropancreatic system) and imaging techniques play a crucial role for the diagnostic approach in MEN 1 syndrome. Even though in the long term, the prognosis of MEN 1 syndrome is unfavourable. Recently, however, many therapeutic strategies, including both surgical and pharmacological options, have been developed to reduce the size of the neoplasm and control symptoms associated with hormone oversecretion.
1型多发性内分泌腺瘤病（MEN 1）综合征包括不同腺体的肿瘤或增生，这些腺体包括甲状旁腺、垂体、肾上腺皮质和胃肠胰系统。绝大多数MEN 1是家族性聚集发病，不过也有少数病例为散发性。高钙血症和/或肾钙质沉着症是家族性MEN 1综合征的首发且最常见的临床表现，其次是胰岛细胞瘤（尤其是分泌胃泌素或胰岛素的肿瘤）以及因功能性或无功能性微腺瘤导致的垂体功能障碍。遗传学研究表明，家族性MEN 1综合征通过显性基因遗传，具有不完全外显率和可变表达。MEN 1综合征的诊断主要基于对临床病史、症状、体格检查的仔细评估，以及血清电解质（如钙、磷等）和激素物质（如胃泌素、胰岛素、胰多肽、催乳素、促肾上腺皮质激素等）的检测。此外，已采用多种激发试验来识别内分泌肿瘤（尤其是胃肠胰系统的肿瘤），并且成像技术在MEN 1综合征的诊断方法中起着关键作用。尽管从长远来看，MEN 1综合征的预后不佳。然而，最近已开发出许多治疗策略，包括手术和药物选择，以缩小肿瘤大小并控制与激素分泌过多相关的症状。
