CASE REPORT article
Front. Pediatr.
Sec. Pediatric Nephrology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1541411
Case report:A renal wasting disease caused by a pure deletion of nephrocystin-1
Provisionally accepted
- 1Lanzhou University, Lanzhou, China
- 2Lanzhou University Second Hospital, Lanzhou, Gansu Province, China
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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.
Keywords: renal wasting disease, NPHP1 gene, pediatric, case report, Sequencing of genome Case report (presentation) 1
Received: 07 Dec 2024; Accepted: 04 Jun 2025.
Copyright: © 2025 Dong, Yang, Luo, Wu, Zhao, Sun and Ma. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jing Yang, Lanzhou University Second Hospital, Lanzhou, 730030, Gansu Province, China
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