Department of Endocrinology, University of Pisa, Pisa, Italy.
Horm Metab Res. 2011 Feb;43(2):126-9. doi: 10.1055/s-0030-1267915. Epub 2010 Oct 22.
Patients with clinical features of MEN 1 without mutations in the menin gene fulfill the criteria of MEN1-like syndrome. Primary hyperparathyroidism (PHP) is the most frequent clinical finding in both syndromes and is usually treated by surgery. However, PHP has been reported to respond to somatostatin analogues (SSA) in MEN 1 patients. 7 patients with PHP in the context of MEN 1-like syndrome (and absence of mutations in the menin gene) were enrolled in the study and treated with SSA for 6 months for the non-PHP disease before parathyroidectomy. Serum ionized calcium, phosphorus, and PTH concentrations, and 24-h urinary calcium and phosphorus excretion were measured before and after SSA therapy. Mean serum ionized calcium, phosphorus, and PTH concentrations did not significantly change after a 6-month course with SSA. SSA scintigraphy did not reveal uptake in the neck region corresponding to the parathyroid adenoma identified at surgery and confirmed at histology. However, immunohistochemistry revealed SS-type 2A receptor in parathyroid tissue samples of 6 out of 7 patients. SSA therapy does not affect calcium-phosphorus metabolism in patients with MEN 1-like syndrome, suggesting that the drug has no role in controlling PHP in these subset of patients.
具有 MEN1 临床特征但 menin 基因突变阴性的患者符合 MEN1 样综合征的标准。在这两种综合征中,甲状旁腺功能亢进症(PHP)是最常见的临床发现,通常通过手术治疗。然而,已有 MEN1 患者对生长抑素类似物(SSA)有反应的报道。本研究纳入了 7 例 MEN1 样综合征伴 PHP(menin 基因突变阴性)的患者,在甲状旁腺切除术之前,他们先接受 SSA 治疗非 PHP 疾病 6 个月。在 SSA 治疗前后测量血清离子钙、磷和 PTH 浓度以及 24 小时尿钙和磷排泄量。经过 6 个月的 SSA 治疗后,血清离子钙、磷和 PTH 浓度的平均值没有明显变化。SSA 闪烁扫描术未显示颈部区域与手术时发现的、组织学证实的甲状旁腺腺瘤有摄取。然而,免疫组化显示 7 例患者中有 6 例的甲状旁腺组织样本存在 SS 型 2A 受体。SSA 治疗不会影响 MEN1 样综合征患者的钙磷代谢,提示该药在这些患者亚群中对控制 PHP 没有作用。