Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1
Nephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents. Mutations in the gene encoding nephrocystin-1, NPHP1, are frequently associated with the disease. Here, we describe the case of a chi...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1541411/full |
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| author | Ting Dong Jiajia Luo Tianhong Sun Huimin Wu Qing Zhao Lina Ma Jing Yang |
| author_facet | Ting Dong Jiajia Luo Tianhong Sun Huimin Wu Qing Zhao Lina Ma Jing Yang |
| author_sort | Ting Dong |
| collection | DOAJ |
| description | Nephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents. Mutations in the gene encoding nephrocystin-1, NPHP1, are frequently associated with the disease. Here, we describe the case of a child who presented to the clinic with febrile convulsions and who was ultimately diagnosed with nephronophthisis caused by a homozygous deletion of the NPHP1 gene. Alerting pediatricians to the recognition of atypical renal wasting disease and reclarifying the diagnostic value of genetic diagnosis for this disease. |
| format | Article |
| id | doaj-art-ff83cb79cf384abaaa7b74655ba7dcd9 |
| institution | OA Journals |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-ff83cb79cf384abaaa7b74655ba7dcd92025-08-20T02:36:04ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-06-011310.3389/fped.2025.15414111541411Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1Ting Dong0Jiajia Luo1Tianhong Sun2Huimin Wu3Qing Zhao4Lina Ma5Jing Yang6Department of Lanzhou University, Lanzhou, ChinaDepartment of Pediatrics, Lanzhou University Second Hospital, Lanzhou, ChinaDepartment of Pediatrics, Lanzhou University Second Hospital, Lanzhou, ChinaDepartment of Pediatrics, Lanzhou University Second Hospital, Lanzhou, ChinaDepartment of Pediatrics, Lanzhou University Second Hospital, Lanzhou, ChinaDepartment of Lanzhou University, Lanzhou, ChinaDepartment of Lanzhou University, Lanzhou, ChinaNephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents. Mutations in the gene encoding nephrocystin-1, NPHP1, are frequently associated with the disease. Here, we describe the case of a child who presented to the clinic with febrile convulsions and who was ultimately diagnosed with nephronophthisis caused by a homozygous deletion of the NPHP1 gene. Alerting pediatricians to the recognition of atypical renal wasting disease and reclarifying the diagnostic value of genetic diagnosis for this disease.https://www.frontiersin.org/articles/10.3389/fped.2025.1541411/fullrenal wasting diseaseNPHP1 genepediatriccase reportsequencing of genome case report (presentation) |
| spellingShingle | Ting Dong Jiajia Luo Tianhong Sun Huimin Wu Qing Zhao Lina Ma Jing Yang Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 Frontiers in Pediatrics renal wasting disease NPHP1 gene pediatric case report sequencing of genome case report (presentation) |
| title | Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 |
| title_full | Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 |
| title_fullStr | Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 |
| title_full_unstemmed | Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 |
| title_short | Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 |
| title_sort | case report a renal wasting disease caused by a pure deletion of nephrocystin 1 |
| topic | renal wasting disease NPHP1 gene pediatric case report sequencing of genome case report (presentation) |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1541411/full |
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