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CASE REPORT article

Front. Pediatr.
Sec. Pediatric Nephrology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1415064

Case report：A potentially pathogenic new variant of the REN gene found in a family suffering from autosomal dominant tubulointerstitial kidney disease

Provisionally accepted
Jingyu Ma Jingyu Ma 1Zhijuan Hu Zhijuan Hu 2*Qiong Liu Qiong Liu 2Jing Li Jing Li 3Jiejie Li Jiejie Li 1
  • 1 North China University of Science and Technology, Tangshan, China
  • 2 Department of Nephrology, Hebei General Hospital, Shijiazhuang, Hebei Province, China
  • 3 Hebei Medical University, Shijiazhuang, Hebei Province, China

The final, formatted version of the article will be published soon.

    Background: Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by REN-causing pathogenic variants (ADTKD-REN) is a rare group of heritable diseases. ADTKD-REN often manifests in childhood with symptoms such as mild hypotension, CKD, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD-REN remains challenging. Case presentation: We describe a 14-year-old boy with acute kidney injury who was found to have a heterozygous missense mutant c.1085G>A;p.Cys362Tyr (not previously reported in the literature)through Sanger sequencing genetic testing. This confirmed a genetic disorder with a probable autosomal dominant inheritance pattern. Notably, despite a family history of autosomal dominant polycystic kidney disease (ADPKD), he was diagnosed with ADTKD. Conclusion：This case identified a new variant in the REN gene, expanding the known spectrum of REN pathogenic variants. Additionally, the importance of family history and genetic testing in confirming the diagnosis is emphasized. Genetic sequencing should be pursued when there are indications for testing.

    Keywords: ADTKD, Acute Kidney Injury, Hyperuricemia, ren, Renal Insufficiency

    Received: 09 Apr 2024; Accepted: 08 Oct 2024.

    Copyright: © 2024 Ma, Hu, Liu, Li and Li. 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: Zhijuan Hu, Department of Nephrology, Hebei General Hospital, Shijiazhuang, 050051, Hebei Province, China

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