Schimke immunoosseous dysplasia: defining skeletal features
Schimke immunoosseous dysplasia: defining skeletal features
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DOI：
10.1007/s00431-009-1115-9
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发表时间：
2010-07-01
影响因子：
3.6
通讯作者：
Boerkoel, Cornelius F.
中科院分区：
文献类型：
--
作者：
Hunter, Kshamta B.;Luecke, Thomas;Boerkoel, Cornelius F.
Schimke免疫性骨发育不良（SIOD）是一种常染色体隐性遗传的多系统疾病，其特征是突出的脊椎骨骺发育不良、T细胞缺乏和局灶节段性肾小球硬化。swi/snf相关的、基质相关的、肌动蛋白依赖的染色质调节子亚家族a样1（SMARCAL 1）中的双等位基因突变是SIOD的唯一确定的原因，但是大约一半的转诊进行分子研究的患者在SMARCAL 1中没有可检测的突变。我们假设骨骼特征区分有或没有SMARCAL 1突变的人。因此，我们分析了22例患者和11例未检测到SMARCAL 1突变的骨骼X线照片。我们发现SMARCAL 1突变患者的脊椎骨骺发育不良（SED）基本上限于脊柱、骨盆、股骨头骨骺，可能还有蝶鞍，而手和其他长骨基本正常。此外，我们发现一些青少年和年轻的成年患者发展为骨质疏松症和髋关节病。在11例未检测到SMARCAL 1突变的患者中，7例患者的SED与SMARCAL 1突变患者无法区分。因此，我们得出结论，SED是SMARCAL 1突变患者的一个特征，骨骼特征不能区分哪些SED患者有SMARCAL 1突变。
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.