Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis
Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis
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DOI：
10.3390/jcm9062013
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发表时间：
2020-06-01
影响因子：
3.9
通讯作者：
Cheong, Hae Il
中科院分区：
文献类型：
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作者：
Park, Eujin;Lee, Chung;Cheong, Hae Il
类固醇抵抗性肾病综合征（SRNS）是儿童期终末期肾病（ESRD）的主要病因之一，主要与局灶节段性肾小球硬化（FSGS）相关。已经确定了超过50种SRNS或FSGS的单基因原因。最近，据报道，儿童SRNS患者的突变检出率约为30%。在这项研究中，我们分析了291名韩国儿童SRNS/FSGS患者的基因型-表型相关性。总体突变检出率为43.6%（291例患者中127例）。wt1是最常见的致病基因（23.6%），其次是coq6（9.4%）、NPHS1（8.7%）、NUP107（7.1%）和coq8b（6.3%）。突变inCOQ6、NUP107和coq8b在该队列中的检测频率高于西方国家的研究队列，而突变inphs2在该队列中的检测频率较低。先天性发病患者、蛋白尿或慢性肾病/ESRD患者以及未接受类固醇治疗的患者的突变检出率较高。SRNS患者的基因诊断不仅提供了明确的诊断，而且为制定治疗政策和预测预后提供了有价值的信息。因此，需要进一步的基因型-表型相关性研究。
Steroid-resistant nephrotic syndrome (SRNS) is one of the major causes of end-stage renal disease (ESRD) in childhood and is mostly associated with focal segmental glomerulosclerosis (FSGS). More than 50 monogenic causes of SRNS or FSGS have been identified. Recently, the mutation detection rate in pediatric patients with SRNS has been reported to be approximately 30%. In this study, genotype-phenotype correlations in a cohort of 291 Korean pediatric patients with SRNS/FSGS were analyzed. The overall mutation detection rate was 43.6% (127 of 291 patients).WT1was the most common causative gene (23.6%), followed byCOQ6(9.4%),NPHS1(8.7%),NUP107(7.1%), andCOQ8B(6.3%). Mutations inCOQ6,NUP107, andCOQ8Bwere more frequently detected, and mutations inNPHS2were less commonly detected in this cohort than in study cohorts from Western countries. The mutation detection rate was higher in patients with congenital onset, those who presented with proteinuria or chronic kidney disease/ESRD, and those who did not receive steroid treatment. Genetic diagnosis in patients with SRNS provides not only definitive diagnosis but also valuable information for decisions on treatment policy and prediction of prognosis. Therefore, further genotype-phenotype correlation studies are required.