Fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva
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DOI：
10.1007/s002470100447
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发表时间：
2001-05-01
影响因子：
2.3
通讯作者：
Kaplan, FS
中科院分区：
文献类型：
--
作者：
Mahboubi, S;Glaser, DL;Kaplan, FS
进行性骨化性纤维发育不良 (FOP) 是一种极其罕见且致残的结缔组织遗传性疾病。该病症的特征是大脚趾先天性畸形以及肌腱、韧带、筋膜和横纹肌的进行性异位骨化。进行性骨化性纤维发育不良是零星发生的，并作为显性性状传播，具有可变的表达和完全的外显率。生殖适应性低。在美国，已知患有这种疾病的患者不到 150 名。据观察，每 200 万人口中就有一名受影响患者的点患病率。不存在性别、种族或民族偏好。该疾病出现在生命早期；它的进程不可避免地是进步的。大多数患者到了三十岁时就只能坐在轮椅上，并且经常在五六岁的时候死于肺部并发症。目前尚无有效的预防或治疗方法。最近发现受影响患者的病变细胞和淋巴细胞中骨形态发生蛋白 4 过量产生，为潜在的病理生理学和潜在治疗提供了线索。FOE 基因最近被定位到人类染色体 4q 27-31。
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder of connective tissue. The condition is characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and striated muscles. Fibrodysplasia ossificans progressiva occurs sporadically and is transmitted as a dominant trait with variable expression and complete penetrance. Reproductive fitness is low. There are fewer than 150 known patients with the disorder in the United States. A point prevalence of one affected patient in every 2 million of population has been observed. There is no sexual, racial, or ethnic predilection. The disease presents in early life; its course is unavoidably progressive. Most patients are confined to a wheelchair by the third decade of life and often succumb to pulmonary complications in the 5th/6th decade of life. At present there is no effective prevention or treatment. The recent discovery of overproduction of bone morphogenetic protein-4 in lesional cells and lymphocytic cells of affected patients provides a clue to both the underlying pathophysiology and potential therapy The FOE gene has recently been mapped to human chromosome 4q 27-31.