Department of Clinical and Experimental Medicine, Federico II University Medical School, via S. Pansini, 5 - 80131 Naples, Italy.
J Endocrinol Invest. 2010 Sep;33(8):519-25. doi: 10.1007/BF03346640. Epub 2009 Dec 22.
The prevalence of Paget's disease of bone (PDB) is unknown in peninsular Southern Italy, although an elevated clinical severity of the disease was reported in patients from Campania.
This study was performed to evaluate the epidemiological and genetic characteristics of PDB in a rural area of Calabria, the southernmost region in the Italian peninsula.
We examined 1068 consecutive pelvic radiographs of patients older than 40 yr referred for any reason to the "Spinelli" Hospital, Belvedere Marittimo, from January 1st 2004 to December 31st 2006. In subjects with radiological findings of pelvic PDB, a 99m Technetium methylene diphosphonate bone scan and the sequence analysis of the sequestosome 1 (SQSTM1) gene were subsequently performed.
In the examined geographic area, the crude radiographic prevalence of pelvic PDB was 0.74% (8/1068; male:female 5:3, mean age 71.6 ± 13.1 yr) whereas the estimated overall prevalence of PDB between 0.82% and 1.21%. PDB patients from Calabria showed clinical characteristics similar to those reported in patients from Campania. The disease was also frequently complicated by osteoarthritis and the right side of the body was more affected than the left. The SQSTM1 gene analysis revealed the presence of a novel missense mutation (M401V) in exon 8 in one subject with a familial and aggressive form of PDB.
The study results confirmed that patients with PDB from rural districts of Southern Italy show an earlier onset and an increased clinical severity of the disease that appears mostly independent from the presence of germinal SQSTM1 mutations.
尽管坎帕尼亚地区的患者报告称该病的临床严重程度较高，但骨 Paget 病（PDB）在意大利半岛南部的普利亚地区的流行情况尚不清楚。
本研究旨在评估卡拉布里亚农村地区 PDB 的流行病学和遗传特征，该地区是意大利半岛最南端的地区。
我们检查了 2004 年 1 月 1 日至 2006 年 12 月 31 日期间因任何原因到贝韦代雷马尔蒂莫的“斯皮内利”医院就诊的 1068 例年龄大于 40 岁的患者的连续骨盆 X 线片。对于有骨盆 PDB 放射学发现的患者，随后进行 99mTc 亚甲基二膦酸盐骨扫描和 sequestosome 1（SQSTM1）基因序列分析。
在所检查的地理区域，骨盆 PDB 的粗放射患病率为 0.74%（8/1068；男：女 5:3，平均年龄 71.6 ± 13.1 岁），而估计的 PDB 总患病率在 0.82%至 1.21%之间。卡拉布里亚的 PDB 患者表现出与坎帕尼亚患者报告的相似的临床特征。该疾病还经常伴有骨关节炎，右侧比左侧更易受影响。SQSTM1 基因分析显示，在一名具有家族性和侵袭性 PDB 的患者中，外显子 8 中存在一种新的错义突变（M401V）。
研究结果证实，来自意大利南部农村地区的 PDB 患者的发病年龄更早，疾病的临床严重程度更高，且这种情况似乎主要与生殖 SQSTM1 突变无关。
