Skeletal features of primary hyperoxaluria type 1, revisited
Skeletal features of primary hyperoxaluria type 1, revisited
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DOI：
10.1007/s11832-008-0082-4
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发表时间：
2008-06-01
影响因子：
1.4
通讯作者：
Kharrat, Khalil
中科院分区：
文献类型：
--
作者：
El Hage, Samer;Ghanem, Ismat;Kharrat, Khalil
目的-本研究的目的是描述骨骼表现的原发性高尿酸血症1型（PH 1），最常见的原发性hypertrophurias.Methods临床和影像学检查12例连续诊断为PH 1，年龄在2和17岁之间。所有患者都有证据表明，某种类型的肾脏受累，其中4人在终末期肾病（ESRD），并根据dialys.Results的主要症状是骨骼疼痛，并只存在于4个严重参与患者，并出现在透析的第二年。2例最严重受累的患者有病理性骨折的证据。有症状或无症状的患者均存在放射学体征。这些影像学体征有两种不同类型：一种几乎是草酸盐中毒的特异性体征，如致密和放射性干骺端带和椎体骨致密化，主要见于严重受累的患者;另一种特异性较低，如肾性骨营养不良的体征，也见于不太严重受累的患者。有趣的是，我们的研究显示25%的病例存在椎弓峡部裂。后者的发现是独特的，以前没有在literation.Conclusions的PH 1的骨骼表现包括具体的和不太具体的放射学体征，与一些患者是无症状的，和其他人提出的骨痛和病理性骨折，以及椎弓峡部裂。
Purpose The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH1), the most common of the primary hyperoxalurias.Methods We clinically and radiographically reviewed 12 consecutive patients diagnosed with PH1, aged between 2 and 17 years. All patients had evidence of some type of renal involvement, 4 of whom were at end-stage renal disease (ESRD) and were under dialysis.Results The main symptom was skeletal pain and was present only in the 4 severely involved patients and appeared during the second year of dialysis. The 2 most severely involved patients had evidence of pathological fractures. Radiological signs were present in patients with or without symptoms. These radiological signs were of two distinct types: those almost specific of oxalosis, such as dense and radiolucent metaphyseal bands and vertebral osteocondensations, which are found mainly in the severely involved individuals, and those less specific, such as signs of renal osteodystrophy, which are also found in less severely involved patients. Interestingly, our study revealed the presence of spondylolysis in 25% of cases. This latter finding is unique and has not previously been reported in the literature.Conclusions The skeletal manifestations of PH1 include specific and less specific radiological signs, with some patients being asymptomatic, and others presenting with bone pain and pathological fractures, as well as spondylolysis.