Pollak Martin R
J Clin Invest. 2015 May;125(5):1799-800. doi: 10.1172/JCI81509. Epub 2015 Apr 20.
In children, chronic kidney disease (CKD) that results from structural abnormalities and glomerular injury is readily diagnosed; however, most cases of pediatric CKD are of unknown etiology. In this issue of the JCI, Verbitsky and colleagues used chromosomal microarrays to evaluate genomic variation in children with CKD. Compared with control individuals, a substantial proportion of children with idiopathic CKD had clearly identifiable genomic imbalances. Moreover, in some cases, detailed analysis of these imbalances identified pathogenic alterations that were unsuspected based on clinical presentation. The results of this study support genome-wide evaluation for pediatric cases of CKD; however, more work will need to be done before such an approach is widely available in the clinic.
在儿童中，由结构异常和肾小球损伤导致的慢性肾脏病（CKD）很容易诊断；然而，大多数儿童CKD病例的病因不明。在本期《临床研究杂志》（JCI）中，韦尔比茨基及其同事使用染色体微阵列来评估CKD儿童的基因组变异。与对照个体相比，相当一部分特发性CKD儿童存在明显可识别的基因组失衡。此外，在某些情况下，对这些失衡的详细分析确定了基于临床表现未被怀疑的致病改变。这项研究的结果支持对儿童CKD病例进行全基因组评估；然而，在这种方法在临床中广泛应用之前，还需要做更多的工作。
