A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants
Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. Defects in the glomerular filtration mechanism are the primary etiology. We present a child who developed severe nephrotic syndrome at...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Nephrology |
| Online Access: | http://dx.doi.org/10.1155/2024/5121375 |
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| author | Kyle N. Goodman Pongpratch Puapatanakul Kevin T. Barton Mai He Jeffrey H. Miner Joseph P. Gaut |
| author_facet | Kyle N. Goodman Pongpratch Puapatanakul Kevin T. Barton Mai He Jeffrey H. Miner Joseph P. Gaut |
| author_sort | Kyle N. Goodman |
| collection | DOAJ |
| description | Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. Defects in the glomerular filtration mechanism are the primary etiology. We present a child who developed severe nephrotic syndrome at two weeks of age and eventually required a bilateral nephrectomy. Genetic testing revealed compound heterozygous variants in NPHS1 including a known pathogenic variant and a missense variant of uncertain significance. Light microscopy revealed crescent formation—an atypical finding in congenital nephrotic syndrome caused by nephrin variants—in addition to focal segmental and global glomerulosclerosis. Electron microscopy showed diffuse podocyte foot process effacement. Confocal and Airyscan immunofluorescence microcopy showed aggregation of nephrin in the podocyte cell body that is not a result of diffuse podocyte foot process effacement as seen in minimal change disease. These findings confirm the novel variant as pathogenic. |
| format | Article |
| id | doaj-art-0e295dc4153c40d1bc7d22510c009953 |
| institution | Kabale University |
| issn | 2090-665X |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Nephrology |
| spelling | doaj-art-0e295dc4153c40d1bc7d22510c0099532025-02-03T01:31:53ZengWileyCase Reports in Nephrology2090-665X2024-01-01202410.1155/2024/5121375A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic VariantsKyle N. Goodman0Pongpratch Puapatanakul1Kevin T. Barton2Mai He3Jeffrey H. Miner4Joseph P. Gaut5Department of Pathology and ImmunologyDivision of NephrologyDivision of NephrologyDepartment of Pathology and ImmunologyDivision of NephrologyDepartment of Pathology and ImmunologyCongenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. Defects in the glomerular filtration mechanism are the primary etiology. We present a child who developed severe nephrotic syndrome at two weeks of age and eventually required a bilateral nephrectomy. Genetic testing revealed compound heterozygous variants in NPHS1 including a known pathogenic variant and a missense variant of uncertain significance. Light microscopy revealed crescent formation—an atypical finding in congenital nephrotic syndrome caused by nephrin variants—in addition to focal segmental and global glomerulosclerosis. Electron microscopy showed diffuse podocyte foot process effacement. Confocal and Airyscan immunofluorescence microcopy showed aggregation of nephrin in the podocyte cell body that is not a result of diffuse podocyte foot process effacement as seen in minimal change disease. These findings confirm the novel variant as pathogenic.http://dx.doi.org/10.1155/2024/5121375 |
| spellingShingle | Kyle N. Goodman Pongpratch Puapatanakul Kevin T. Barton Mai He Jeffrey H. Miner Joseph P. Gaut A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants Case Reports in Nephrology |
| title | A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants |
| title_full | A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants |
| title_fullStr | A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants |
| title_full_unstemmed | A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants |
| title_short | A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants |
| title_sort | case of congenital nephrotic syndrome with crescents caused by a novel compound heterozygous pairing of nphs1 genetic variants |
| url | http://dx.doi.org/10.1155/2024/5121375 |
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