Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review
ObjectivesSteroid-resistant nephrotic syndrome (SRNS) is a clinical syndrome characterized by the lack of response to standard steroid therapy, usually progressing to end-stage renal disease. We reported two cases of female identical twins with SRNS caused by SGPL1 variants in one family, reviewed t...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-02-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1079758/full |
| _version_ | 1828014265635700736 |
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| author | Siying Yang Yonghua He Jianhua Zhou Huiqing Yuan Liru Qiu |
| author_facet | Siying Yang Yonghua He Jianhua Zhou Huiqing Yuan Liru Qiu |
| author_sort | Siying Yang |
| collection | DOAJ |
| description | ObjectivesSteroid-resistant nephrotic syndrome (SRNS) is a clinical syndrome characterized by the lack of response to standard steroid therapy, usually progressing to end-stage renal disease. We reported two cases of female identical twins with SRNS caused by SGPL1 variants in one family, reviewed the relevant literature, and summarized their clinical phenotypes, pathological types, and genotypic characteristics.MethodsTwo cases of nephrotic syndrome caused by SGPL1 variants were admitted to Tongji Hospital, affiliated with Tongji Medical College of Huazhong University of Science and Technology. Their clinical data were retrospectively collected, and the peripheral blood genomic DNA was captured and sequenced by whole exome sequencing. Related literature published in PubMed, CNKI, and Wan fang databases was reviewed.ResultsWe described two Chinese identical twin girls with isolated SRNS due to compound heterozygous variants in the SGPL1 (intron4 c.261 + 1G > A and intron12 c.1298 + 6T > C). The patients were followed up for 60.0 months and 53.0 months, respectively, having no extra-renal manifestations. They all died due to renal failure. A total of 31 children with SGPL1 variants causing nephrotic syndrome (including the reported two cases) were identified through a literature review.ConclusionsThese two female identical twins were the first reported cases of isolated SRNS caused by SGPL1 variants. Almost all homozygous and compound heterozygous variants of SGPL1 had extra-renal manifestations, but compound heterozygous variants in the intron of SGPL1 may have no obvious extra-renal manifestations. Additionally, a negative genetic testing result does not completely rule out genetic SRNS because the Human Gene Mutation Database or ClinVar is constantly being updated. |
| first_indexed | 2024-04-10T09:59:18Z |
| format | Article |
| id | doaj.art-d4457dcd68814ccd8ec5812ca0f1041a |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-10T09:59:18Z |
| publishDate | 2023-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-d4457dcd68814ccd8ec5812ca0f1041a2023-02-16T11:08:40ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-02-011110.3389/fped.2023.10797581079758Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature reviewSiying YangYonghua HeJianhua ZhouHuiqing YuanLiru QiuObjectivesSteroid-resistant nephrotic syndrome (SRNS) is a clinical syndrome characterized by the lack of response to standard steroid therapy, usually progressing to end-stage renal disease. We reported two cases of female identical twins with SRNS caused by SGPL1 variants in one family, reviewed the relevant literature, and summarized their clinical phenotypes, pathological types, and genotypic characteristics.MethodsTwo cases of nephrotic syndrome caused by SGPL1 variants were admitted to Tongji Hospital, affiliated with Tongji Medical College of Huazhong University of Science and Technology. Their clinical data were retrospectively collected, and the peripheral blood genomic DNA was captured and sequenced by whole exome sequencing. Related literature published in PubMed, CNKI, and Wan fang databases was reviewed.ResultsWe described two Chinese identical twin girls with isolated SRNS due to compound heterozygous variants in the SGPL1 (intron4 c.261 + 1G > A and intron12 c.1298 + 6T > C). The patients were followed up for 60.0 months and 53.0 months, respectively, having no extra-renal manifestations. They all died due to renal failure. A total of 31 children with SGPL1 variants causing nephrotic syndrome (including the reported two cases) were identified through a literature review.ConclusionsThese two female identical twins were the first reported cases of isolated SRNS caused by SGPL1 variants. Almost all homozygous and compound heterozygous variants of SGPL1 had extra-renal manifestations, but compound heterozygous variants in the intron of SGPL1 may have no obvious extra-renal manifestations. Additionally, a negative genetic testing result does not completely rule out genetic SRNS because the Human Gene Mutation Database or ClinVar is constantly being updated.https://www.frontiersin.org/articles/10.3389/fped.2023.1079758/fullsteroid-resistant nephrotic syndromeproteinuriaSGPL1 gene mutationclinical phenotypegenotype |
| spellingShingle | Siying Yang Yonghua He Jianhua Zhou Huiqing Yuan Liru Qiu Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review Frontiers in Pediatrics steroid-resistant nephrotic syndrome proteinuria SGPL1 gene mutation clinical phenotype genotype |
| title | Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review |
| title_full | Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review |
| title_fullStr | Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review |
| title_full_unstemmed | Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review |
| title_short | Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review |
| title_sort | steroid resistant nephrotic syndrome associated with certain sgpl1 variants in a family case report and literature review |
| topic | steroid-resistant nephrotic syndrome proteinuria SGPL1 gene mutation clinical phenotype genotype |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1079758/full |
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