2023 Fiscal Year Final Research Report
Genetic analysis and elucidation of pathology of focal segmental glomerulosclerosis based on a clinicopathological database
| Project/Area Number |
21K07857
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
Kaneko Naoto 東京女子医科大学, 医学部, 非常勤講師 (90791955)
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| Co-Investigator(Kenkyū-buntansha) |
橋本 多恵子 山形大学, 医学部, 非常勤講師 (30507629)
服部 元史 東京女子医科大学, 医学部, 教授 (50192274)
神田 祥一郎 東京大学, 医学部附属病院, 講師 (60632651)
三浦 健一郎 東京女子医科大学, 医学部, 准教授 (70408483)
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| Project Period (FY) |
2021-04-01 – 2024-03-31
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| Keywords | 巣状分節性糸球体硬化症(FSGS) / 遺伝子解析 / 腎移植後再発 |
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| Outline of Final Research Achievements |
Genetic diagnosis of focal segmental glomerulosclerosis (FSGS) can be useful for predicting post-transplant recurrence. However, the characteristics of patients who are likely to have a monogenic cause remain to be determined. 24 pediatric FSGS patients from 23 families who underwent kidney transplantation at our center between 1999 and 2019 were analyzed. The recipients were divided into 3 groups based on clinicopathological findings: familial/syndromic, presumed primary, and undetermined FSGS. All patients underwent genetic testing using next-generation sequencing. Pathogenic or likely pathogenic variants in FSGS-related genes were identified in 4 of 4 families, 0 of 8 families, and 10 of 11 families with familial/syndromic, presumed primary, and undetermined FSGS, respectively. Our approach based on precise clinicopathological findings may be useful to differentiate pediatric kidney transplant recipients with FSGS who are likely to have a monogenic cause from patients who are not.
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| Free Research Field |
腎臓内科学
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| Academic Significance and Societal Importance of the Research Achievements |
本研究により、FSGSの腎移植患者に対し遺伝子解析を行う際には、詳細な臨床病理学的情報をもとにして適応を検討することが有用であると示唆された。次世代シーケンサーを用いた遺伝子解析は一定のコストと労力がかかり、遺伝カウンセリング体制の整備が求められるため、本研究の成果が臨床の現場にもたらす利益は大きいと考えられる。
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