Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study
Introduction: Few studies have addressed the genetic spectrum of NPHS1 variants in Chinese children with nephrotic syndrome. In this multicenter study, the clinical manifestations and features of NPHS1 variants in Chinese children with nephrotic syndrome were researched.Method: Genotypical and pheno...
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2021
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oai:doaj.org-article:d9ab4b91e9b24dce8f94058369ea3c782021-11-11T07:24:34ZGenetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study2296-858X10.3389/fmed.2021.771227https://doaj.org/article/d9ab4b91e9b24dce8f94058369ea3c782021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fmed.2021.771227/fullhttps://doaj.org/toc/2296-858XIntroduction: Few studies have addressed the genetic spectrum of NPHS1 variants in Chinese children with nephrotic syndrome. In this multicenter study, the clinical manifestations and features of NPHS1 variants in Chinese children with nephrotic syndrome were researched.Method: Genotypical and phenotypical data from 30 children affected by NPHS1 variants were collected from a multicenter registration system in China and analyzed retrospectively.Results: The patients were divided into two groups: congenital nephrotic syndrome (CNS [n = 24]) and non-CNS (early onset nephrotic syndrome [n = 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 NPHS1 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.Conclusion: Variants of NPHS1 cause CNS and early childhood-onset nephrotic syndrome. NPHS1 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.Liping RongLizhi ChenJia RaoQian ShenGuomin LiJialu LiuJianhua MaoChunyue FengXiaowen WangSi WangXinyu KuangWenyan HuangQingshan MaXiaorong LiuChen LingRong FuXiaojie GaoGuixia DingHuandan YangMei HanZhimin HuangQian LiQiuye ZhangYi LinXiaoyun JiangHong XuFrontiers Media S.A.articleNPHS1variantscongenital nephrotic syndromechildrenmulticentersteroid resistanceMedicine (General)R5-920ENFrontiers in Medicine, Vol 8 (2021) |
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NPHS1 variants congenital nephrotic syndrome children multicenter steroid resistance Medicine (General) R5-920 |
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NPHS1 variants congenital nephrotic syndrome children multicenter steroid resistance Medicine (General) R5-920 Liping Rong Lizhi Chen Jia Rao Qian Shen Guomin Li Jialu Liu Jianhua Mao Chunyue Feng Xiaowen Wang Si Wang Xinyu Kuang Wenyan Huang Qingshan Ma Xiaorong Liu Chen Ling Rong Fu Xiaojie Gao Guixia Ding Huandan Yang Mei Han Zhimin Huang Qian Li Qiuye Zhang Yi Lin Xiaoyun Jiang Hong Xu Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study |
| description |
Introduction: Few studies have addressed the genetic spectrum of NPHS1 variants in Chinese children with nephrotic syndrome. In this multicenter study, the clinical manifestations and features of NPHS1 variants in Chinese children with nephrotic syndrome were researched.Method: Genotypical and phenotypical data from 30 children affected by NPHS1 variants were collected from a multicenter registration system in China and analyzed retrospectively.Results: The patients were divided into two groups: congenital nephrotic syndrome (CNS [n = 24]) and non-CNS (early onset nephrotic syndrome [n = 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 NPHS1 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.Conclusion: Variants of NPHS1 cause CNS and early childhood-onset nephrotic syndrome. NPHS1 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. |
| format |
article |
| author |
Liping Rong Lizhi Chen Jia Rao Qian Shen Guomin Li Jialu Liu Jianhua Mao Chunyue Feng Xiaowen Wang Si Wang Xinyu Kuang Wenyan Huang Qingshan Ma Xiaorong Liu Chen Ling Rong Fu Xiaojie Gao Guixia Ding Huandan Yang Mei Han Zhimin Huang Qian Li Qiuye Zhang Yi Lin Xiaoyun Jiang Hong Xu |
| author_facet |
Liping Rong Lizhi Chen Jia Rao Qian Shen Guomin Li Jialu Liu Jianhua Mao Chunyue Feng Xiaowen Wang Si Wang Xinyu Kuang Wenyan Huang Qingshan Ma Xiaorong Liu Chen Ling Rong Fu Xiaojie Gao Guixia Ding Huandan Yang Mei Han Zhimin Huang Qian Li Qiuye Zhang Yi Lin Xiaoyun Jiang Hong Xu |
| author_sort |
Liping Rong |
| title |
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study |
| title_short |
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study |
| title_full |
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study |
| title_fullStr |
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study |
| title_full_unstemmed |
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study |
| title_sort |
genetic variations and clinical features of nphs1-related nephrotic syndrome in chinese children: a multicenter, retrospective study |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/d9ab4b91e9b24dce8f94058369ea3c78 |
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