Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.
Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.
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DOI：
10.1002/ajmg.a.32508
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发表时间：
2008-11-01
期刊：
影响因子：
--
通讯作者：
Marini JC
中科院分区：
文献类型：
--
作者：
Obafemi AA;Bulas DI;Troendle J;Marini JC
骨质疏松症是一种遗传性疾病，其特征是骨质疏松和骨折易感性增加。所有重度OI的患儿都有极矮小的身材，有些有“爆米花”状钙化，下肢X线片上生长板周围的干骺端和骨骺有紊乱的高密度线。在两名患有非致死性VIII型OI（P3 H1缺乏引起的隐性形式）的儿童的X光片上发现爆米花状钙化。为了确定爆米花样钙化的发生率、进展和分子相关性，我们回顾性检查了45例III型或IV型OI和已知I型胶原显性突变儿童的系列下肢X线片。25例III型OI患儿中有13例（52%）出现爆米花样钙化，但20例IV型OI患儿中仅有2例（10%）出现爆米花样钙化。平均发病年龄为7.0岁，范围为4-14岁。所有出现爆米花状钙化的儿童在其股骨远端均有此发现，大多数在股骨近端也有钙化。虽然单侧爆米花状钙化导致股骨生长缺陷和下肢不等长，但严重的线性生长缺陷和干骺端扩张在伴有和不伴有爆米花状钙化的III型OI患者之间没有显著差异。与爆米花样钙化相关的I型胶原突变在COL 1A 1和COL 1A 2中同样发生，并且沿着链没有优先位置沿着。这些数据表明爆米花状钙化是严重OI的常见特征，但不能区分胶原结构缺陷（主要是显性III型OI）或修饰（隐性VIII型OI）的病例。
Osteogenesis imperfecta (OI) is a heritable disorder characterized by osteoporosis and increased susceptibility to fracture. All children with severe OI have extreme short stature and some have “popcorn” calcifications, areas of disorganized hyperdense lines in the metaphysis and epiphysis around the growth plate on lower limb radiographs. Popcorn calcifications were noted on radiographs of two children with non-lethal type VIII OI, a recessive form caused by P3H1 deficiency. To determine the incidence, progression, and molecular correlations of popcorn calcifications, we retrospectively examined serial lower limb radiographs of 45 children with type III or IV OI and known dominant mutations in type I collagen. Popcorn calcifications were present in 13 of 25 type III (52%), but only 2 of 20 type IV (10%), OI children. The mean age of onset was 7.0 years, with a range of 4–14 years. All children with popcorn calcifications had this finding in their distal femora, and most also had calcifications in proximal tibiae. While unilateral popcorn calcification contributes to femoral growth deficiency and leg length discrepancy, severe linear growth deficiency, and metaphyseal flare do not differ significantly between type III OI patients with and without popcorn calcifications. The type I collagen mutations associated with popcorn calcifications occur equally in both COL1A1 and COL1A2, and have no preferential location along the chains. These data demonstrate that popcorn calcifications are a frequent feature of severe OI, but do not distinguish cases with defects in collagen structure (primarily dominant type III OI) or modification (recessive type VIII OI).
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影响因子：
64.5
作者：
Morello, Roy;Bertin, Terry K.;Lee, Brendan
通讯作者：
Lee, Brendan
影响因子：
19.7
作者：
GOLDMAN, AB;DAVIDSON, D;BULLOUGH, PG
通讯作者：
BULLOUGH, PG
影响因子：
30.8
作者：
Cabral, Wayne A.;Chang, Weizhong;Marini, Joan C.
通讯作者：
Marini, Joan C.
影响因子：
4.3
作者：
Marini, Joan C.;Cabral, Wayne A.;Chang, Weizhong
通讯作者：
Chang, Weizhong
影响因子：
6.2
作者：
Marini, JC;Hopkins, E;Reing, CM
通讯作者：
Reing, CM