Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
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DOI：
10.2215/cjn.07540715
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发表时间：
2016-04-01
影响因子：
9.8
通讯作者：
Hildebrandt, Friedhelm
中科院分区：
文献类型：
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作者：
Braun, Daniela Anne;Lawson, Jennifer Ashley;Hildebrandt, Friedhelm
背景和目的肾结石是一种常见的疾病，影响10%-15%的成年人在他们的一生。它与高发病率有关，由于绞痛疼痛，手术干预的必要性，有时进展为CKD。近年来，肾结石和肾钙质沉着症的多个单基因原因已被确定。然而，在儿科肾结石队列中每个单基因基因的患病率尚未被广泛研究。设计，设置，参与者和测量为了确定可以通过30个已知肾结石/肾钙质沉着症基因之一的突变在分子上解释的病例的百分比，我们在143个个体的国际队列中进行了高通量外显子测序分析。
Background and objectives Nephrolithiasis is a prevalent condition that affects 10%-15% of adults in their lifetime. It is associated with high morbidity due to colicky pain, the necessity for surgical intervention, and sometimes progression to CKD. In recent years, multiple monogenic causes of nephrolithiasis and nephrocalcinosis have been identified. However, the prevalence of each monogenic gene in a pediatric renal stone cohort has not yet been extensively studied.Design, setting, participants, & measurements To determine the percentage of cases that can be explained molecularly by mutations in one of 30 known nephrolithiasis/nephrocalcinosis genes, we conducted a high-throughput exon sequencing analysis in an international cohort of 143 individuals