Gennari Luigi, Merlotti Daniela, Martini Giuseppe, Nuti Ranuccio
Department of Internal Medicine, Endocrine-Metabolic Sciences and Biochemistry, University of Siena, Siena, Italy.
J Bone Miner Res. 2006 Dec;21 Suppl 2:P14-21. doi: 10.1359/jbmr.06s203.
Epidemiological studies of Paget's disease of bone (PDB) suggest a pronounced geographical variation in the prevalence of the disease and a decrease in prevalence and clinical severity over time. To analyze epidemiological and clinical features of PDB in Italy, we recently established a registry of Italian PDB cases and performed radiological, biochemical, and bone scan surveys in the towns of Siena and Turin. The overall prevalence of PDB in Italy varied between 0.7% and 2.4%. Prevalence rates increased with age and were higher in men than in women. We observed clinically confirmed familial aggregation in 15-26% of cases. Pedigree analysis indicated an autosomal dominant pattern of inheritance with variable penetrance. SQSTM1 gene analysis in two Italian studies revealed the presence of at least three different mutations accounting for both familial and sporadic cases. Interestingly, no decrease in the prevalence of PDB over time was observed, the opposite of what is described in populations of British descent. However, clinical severity of PDB cases included in the Registry in 2002-2004 seemed reduced with respect to that of PDB patients from the previous epidemiological studies, including a 1950-1956 Italian study. Of interest, a consistent association between PDB and animal-related factors and a significantly higher prevalence of the disease in rural than in urban districts were observed. These findings are in keeping with an important role of the environment in the pathogenesis of PDB, perhaps facilitating the expression of the disease in genetically susceptible subjects. Finally, there was also preliminary evidence indicating regional clustering of PDB in Italy, with a concentration of cases in rural districts of Campania and Tuscany. These districts may represent high prevalence areas of PDB in Italy, similar to what has been observed in other countries. Extrapolation estimates suggest that approximately 150,000-300,000 subjects may be affected with PDB in our country. These results confirm PDB to be the most common bone remodeling disorder in elderly people in Italy, excluding osteoporosis.
骨佩吉特病（PDB）的流行病学研究表明，该病的患病率存在显著的地域差异，且随着时间推移患病率及临床严重程度呈下降趋势。为分析意大利PDB的流行病学和临床特征，我们最近建立了意大利PDB病例登记处，并在锡耶纳和都灵市进行了放射学、生化及骨扫描调查。意大利PDB的总体患病率在0.7%至2.4%之间。患病率随年龄增长而升高，男性高于女性。我们在15% - 26%的病例中观察到临床确诊的家族聚集现象。系谱分析表明其遗传模式为常染色体显性遗传，外显率可变。两项意大利研究中的SQSTM1基因分析显示，至少存在三种不同突变，可解释家族性和散发性病例。有趣的是，未观察到PDB患病率随时间下降，这与英国血统人群的情况相反。然而，2002 - 2004年登记处纳入的PDB病例的临床严重程度，相较于之前包括1950 - 1956年意大利研究在内的流行病学研究中的PDB患者，似乎有所降低。值得注意的是，观察到PDB与动物相关因素之间存在一致关联，且农村地区该病的患病率显著高于城市地区。这些发现与环境在PDB发病机制中的重要作用相符，环境可能促使该病在遗传易感性个体中表达。最后，也有初步证据表明意大利PDB存在区域聚集现象，病例集中在坎帕尼亚和托斯卡纳的农村地区。这些地区可能是意大利PDB的高患病率地区，与其他国家观察到的情况类似。外推估计表明，我国约有15万至30万人可能患有PDB。这些结果证实PDB是意大利老年人中除骨质疏松症外最常见的骨重塑疾病。
