Rong Liping, Chen Lizhi, Rao Jia, Shen Qian, Li Guomin, Liu Jialu, Mao Jianhua, Feng Chunyue, Wang Xiaowen, Wang Si, Kuang Xinyu, Huang Wenyan, Ma Qingshan, Liu Xiaorong, Ling Chen, Fu Rong, Gao Xiaojie, Ding Guixia, Yang Huandan, Han Mei, Huang Zhimin, Li Qian, Zhang Qiuye, Lin Yi, Jiang Xiaoyun, Xu Hong
Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China.
Front Med (Lausanne). 2021 Nov 11;8:771227. doi: 10.3389/fmed.2021.771227. eCollection 2021.
Few studies have addressed the genetic spectrum of variants in Chinese children with nephrotic syndrome. In this multicenter study, the clinical manifestations and features of variants in Chinese children with nephrotic syndrome were researched. Genotypical and phenotypical data from 30 children affected by variants were collected from a multicenter registration system in China and analyzed retrospectively. The patients were divided into two groups: congenital nephrotic syndrome (CNS [ = 24]) and non-CNS (early onset nephrotic syndrome [ = 6]). Renal biopsy was performed on four patients in the non-CNS group, revealing minimal change disease in three and focal segmental glomerulosclerosis in one. A total of 61 1 variants were detected, involving 25 novel variants. The "recurrent variants" included c.928G>A(p.Asp310Asn) in eight patients with CNS, followed by c.616C>A(p.Pro206Thr) in four, and c.2207T>C (p.Val736Ala) in three. Steroid treatment was applied in 29.2% (7/24)of the patients in the CNS group and 50% (3/6) of the patients in the non-CNS group. One patient in each group experienced complete remission but relapsed subsequently. Immunosuppressants were administered to three patients in the non-CNS group, eliciting an effective response. In the CNS group, three patients underwent renal transplantation and six died mainly from infection. Variants of cause CNS and early childhood-onset nephrotic syndrome. variants in Chinese individuals with nephrotic syndrome (NS) were mainly compound heterozygous variants, and c.928G>A(p.Asp310Asn) in exon 8 may act as a recurrent variant in the Chinese population, followed by c.616C>A(p.Pro206Thr) in exon 6. Steroids and immunosuppressants may be effective in selected patients.
很少有研究涉及中国肾病综合征患儿的基因变异谱。在这项多中心研究中，对中国肾病综合征患儿变异的临床表现和特征进行了研究。从中国的一个多中心登记系统收集了30例受变异影响儿童的基因型和表型数据，并进行回顾性分析。患者分为两组：先天性肾病综合征（CNS [n = 24]）和非CNS（早发性肾病综合征 [n = 6]）。对非CNS组的4例患者进行了肾活检，其中3例显示微小病变，1例显示局灶节段性肾小球硬化。共检测到61个变异，其中包括25个新变异。“复发变异”包括8例CNS患者中的c.928G>A（p.Asp310Asn），其次是4例中的c.616C>A（p.Pro206Thr）和3例中的c.2207T>C（p.Val736Ala）。CNS组29.2%（7/24）的患者和非CNS组50%（3/6）的患者接受了类固醇治疗。每组各有1例患者达到完全缓解，但随后复发。非CNS组3例患者接受了免疫抑制剂治疗，取得了有效反应。在CNS组，3例患者接受了肾移植，6例患者主要死于感染。变异导致CNS和儿童早期肾病综合征。中国肾病综合征（NS）个体的变异主要是复合杂合变异，外显子8中的c.928G>A（p.Asp310Asn）可能是中国人群中的复发变异，其次是外显子6中的c.616C>A（p.Pro206Thr）。类固醇和免疫抑制剂可能对部分患者有效。
