Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease
BackgroundAutosomal 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, chronic kidney disease, hyperkalemia, anemia, and acidosi...
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Frontiers Media S.A.
2024-12-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1415064/full |
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| author | Jingyu Ma Jingyu Ma Zhijuan Hu Qiong Liu Jing Li Jing Li Jiejie Li Jiejie Li |
| author_facet | Jingyu Ma Jingyu Ma Zhijuan Hu Qiong Liu Jing Li Jing Li Jiejie Li Jiejie Li |
| author_sort | Jingyu Ma |
| collection | DOAJ |
| description | BackgroundAutosomal 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, chronic kidney disease, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD-REN remains challenging.Case presentationWe 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, he was diagnosed with ADTKD.ConclusionThis case identified a new variant in the REN gene, expanding the known spectrum of REN pathogenic variants. In addition, 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. |
| format | Article |
| id | doaj-art-a1d8e341d6d44f7d95734f2a4ec9f3f6 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-a1d8e341d6d44f7d95734f2a4ec9f3f62024-12-11T04:31:35ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-12-011210.3389/fped.2024.14150641415064Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney diseaseJingyu Ma0Jingyu Ma1Zhijuan Hu2Qiong Liu3Jing Li4Jing Li5Jiejie Li6Jiejie Li7Department of Internal Medicine, North China University of Science and Technology, Tangshan, ChinaDepartment of Nephrology, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Nephrology, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Nephrology, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Nephrology, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Internal Medicine, Hebei Medical University, Shijiazhuang, ChinaDepartment of Internal Medicine, North China University of Science and Technology, Tangshan, ChinaDepartment of Nephrology, Hebei General Hospital, Shijiazhuang, ChinaBackgroundAutosomal 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, chronic kidney disease, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD-REN remains challenging.Case presentationWe 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, he was diagnosed with ADTKD.ConclusionThis case identified a new variant in the REN gene, expanding the known spectrum of REN pathogenic variants. In addition, 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.https://www.frontiersin.org/articles/10.3389/fped.2024.1415064/fullADTKDacute kidney injuryhyperuricemiaRENrenal insufficiency |
| spellingShingle | Jingyu Ma Jingyu Ma Zhijuan Hu Qiong Liu Jing Li Jing Li Jiejie Li Jiejie Li Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease Frontiers in Pediatrics ADTKD acute kidney injury hyperuricemia REN renal insufficiency |
| title | Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease |
| title_full | Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease |
| title_fullStr | Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease |
| title_full_unstemmed | Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease |
| title_short | Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease |
| title_sort | case report a potentially pathogenic new variant of the ren gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease |
| topic | ADTKD acute kidney injury hyperuricemia REN renal insufficiency |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1415064/full |
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