{"title":"A Case Report of a Patient with COQ8B Nephropathy Manifesting Atypical Renal Pathological Changes.","authors":"Fan Wu, Fengfang Wei, Bingqing Liu, Danhua Lin","doi":"10.7754/Clin.Lab.2024.240706","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>COQ8B nephropathy is a hereditary mitochondrial kidney disease. Most cases present with steroidresistant nephrotic syndrome and focal segmental glomerulosclerosis, whereas this patient exhibited asymptomatic isolated proteinuria and mild renal histopathology.</p><p><strong>Methods: </strong>Appropriate laboratory tests, abdominal ultrasonography, renal biopsy, and whole exome sequencing were performed to explore the cause of the disease.</p><p><strong>Results: </strong>Laboratory results revealed that the patient was asymptomatic. Abdominal ultrasonography confirmed left renal vein nutcracker. Renal histopathology showed mild mesangial proliferation. An unreported splice mutation in the COQ8B (c.893+2T>A) gene was identified by whole exome sequencing.</p><p><strong>Conclusions: </strong>COQ8B nephropathy is an emerging cause of isolated proteinuria, particularly prevalent among adolescents. For nephritis of unknown etiology following renal biopsy, prompt consideration of gene sequencing is advisable.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"70 12","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2024.240706","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
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Abstract
Background: COQ8B nephropathy is a hereditary mitochondrial kidney disease. Most cases present with steroidresistant nephrotic syndrome and focal segmental glomerulosclerosis, whereas this patient exhibited asymptomatic isolated proteinuria and mild renal histopathology.
Methods: Appropriate laboratory tests, abdominal ultrasonography, renal biopsy, and whole exome sequencing were performed to explore the cause of the disease.
Results: Laboratory results revealed that the patient was asymptomatic. Abdominal ultrasonography confirmed left renal vein nutcracker. Renal histopathology showed mild mesangial proliferation. An unreported splice mutation in the COQ8B (c.893+2T>A) gene was identified by whole exome sequencing.
Conclusions: COQ8B nephropathy is an emerging cause of isolated proteinuria, particularly prevalent among adolescents. For nephritis of unknown etiology following renal biopsy, prompt consideration of gene sequencing is advisable.
期刊介绍：
Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.
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