2019 Fiscal Year Final Research Report
Newborn Screening for Hypophosphatasia
| Project/Area Number |
17K10055
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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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| Research Field |
Pediatrics
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| Research Institution | Kumamoto University |
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Principal Investigator |
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Keywords | 新生児スクリーニング / 低ホスファターゼ症 |
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| Outline of Final Research Achievements |
Using DBS blood for hypophosphatasia (n = 10,777, consent rate 96%), TNSALP activity distribution showed distribution around the average value of 752.1 pmol/hr/disk. As a result of cut off value less than 300 pmol/hr/disk, 11 re-tests needed (11/10,777 = 0.10%), and no precision required. Newborns with low alkaline phosphatase levels were found to be biochemical. It is considered that appropriate diagnosis, treatment timing and disease outline can be clarified by performing definitive diagnosis by performing alkaline phosphatase measurement, phosphoethanolamine measurement, and gene analysis.
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| Free Research Field |
新生児スクリーニング
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| Academic Significance and Societal Importance of the Research Achievements |
低ホスファターゼ症に関して、新生児10,777人を対象としたスクリーニングのパイロット県有をおこなった。同意率は約 96%であり、TNSALP酵素活性は平均値752.1pmol/hr/diskを中心に上下になだらかな濃度分布を示した。カットオフを300pmol/hr/disk未満で疾患であるかどうかを判別した結果、再採血が11例発生し、再採血率は11/10,777=0.10%であり、要精密検体は発生していない。発見されたアルカリホスファターゼ低値の新生児は、遺伝子解析などをおこなうことで確定診断が可能となる。
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