Eller-Vainicher Cristina, Chiodini Iacopo, Battista Claudia, Viti Raffaella, Mascia Maria Lucia, Massironi Sara, Peracchi Maddalena, D'Agruma Leonardo, Minisola Salvatore, Corbetta Sabrina, Cole David E C, Spada Anna, Scillitani Alfredo
Unit of Endocrinology-Diabetology, Department of Medical Sciences, University of Milan, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, IRCCS, Milan, Italy.
J Bone Miner Res. 2009 Aug;24(8):1404-10. doi: 10.1359/jbmr.090304.
Primary hyperparathyroidism (PHPT) is a common endocrine disease that is associated with multiple endocrine neoplasia type 1 (MEN1) in approximately 2% of PHPT cases. Lack of a family history and other specific expressions may lead to underestimated MEN1 prevalence in PHPT. The aim of this study was to identify clinical or biochemical features predictive of MEN1 and to compare the severity of the disease in MEN1-related versus sporadic PHPT (sPHPT). We performed a 36-mo cross-sectional observational study in three tertiary referral centers on an outpatient basis on 469 consecutive patients with sporadic PHPT and 64 with MEN1-related PHPT. Serum calcium, phosphate, PTH, 25(OH)D(3), and creatinine clearance were measured, and ultrasound examination of the urinary tract/urography was performed in all patients. In 432 patients, BMD was measured at the lumbar spine (LS) and femoral neck (FN). MEN1 patients showed lower BMD Z-scores at the LS (-1.33 +/- 1.23 versus -0.74 +/- 1.4, p = 0.008) and FN (-1.13 +/- 0.96 versus -0.6 +/- 1.07, p = 0.002) and lower phosphate (2.38 +/- 0.52 versus 2.56 +/- 0.45 mg/dl, p = 0.003) and PTH (113.8 +/- 69.5 versus 173.7 +/- 135 pg/ml, p = 0.001) levels than sPHPT patients. Considering probands only, the presence of MEN1 was more frequently associated with PTH values in the normal range (OR, 3.01; 95% CI, 1.07-8.50; p = 0.037) and younger age (OR, 1.61; 95% CI, 1.28-2.02; p = 0.0001). A combination of PTH values in the normal range plus age <50 yr was strongly associated with MEN1 presence (OR, 13.51; 95% CI, 3.62-50.00; p = 0.0001). In conclusion, MEN1-related PHPT patients show more severe bone but similar kidney involvement despite a milder biochemical presentation compared with their sPHPT counterparts. Normal PTH levels and young age are associated with MEN1 presence.
原发性甲状旁腺功能亢进症（PHPT）是一种常见的内分泌疾病，在约2%的PHPT病例中与1型多发性内分泌腺瘤病（MEN1）相关。缺乏家族病史和其他特定表现可能导致PHPT中MEN1患病率被低估。本研究的目的是确定预测MEN1的临床或生化特征，并比较MEN1相关PHPT与散发性PHPT（sPHPT）的疾病严重程度。我们在三个三级转诊中心进行了一项为期36个月的横断面观察性研究，对469例连续性散发性PHPT患者和64例MEN1相关PHPT患者进行门诊随访。测量了血清钙、磷、甲状旁腺激素（PTH）、25（OH）D（3）和肌酐清除率，并对所有患者进行了尿路超声检查/尿路造影。在432例患者中，测量了腰椎（LS）和股骨颈（FN）的骨密度（BMD）。MEN1患者在LS（-1.33±1.23对-0.74±1.4，p = 0.008）和FN（-1.13±0.96对-0.6±1.07，p = 0.002）处的BMD Z评分较低，磷酸盐（2.38±0.52对2.56±0.45mg/dl，p = 0.003）和PTH（113.8±69.5对173.7±135pg/ml，p = 0.001）水平也低于sPHPT患者。仅考虑先证者，MEN1的存在更常与正常范围内的PTH值（比值比[OR]，3.01；95%置信区间[CI]，1.07 - 8.50；p = 0.037）和较年轻的年龄（OR，1.61；95%CI，1.28 - 2.02；p = 0.0001）相关。正常范围内的PTH值加上年龄<50岁与MEN1的存在密切相关（OR，13.51；95%CI，3.62 - 50.00；p = 0.0001）。总之，与sPHPT患者相比，MEN1相关PHPT患者的骨骼受累更严重，但肾脏受累情况相似，尽管其生化表现较轻。正常的PTH水平和年轻年龄与MEN1的存在相关。
