教員業績データベース |
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論文種別 | 症例報告 |
言語種別 | 英語 |
査読の有無 | 査読あり |
表題 | Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening. |
掲載誌名 | 正式名:Pediatrics international : official journal of the Japan Pediatric Society 略 称:Pediatr Int ISSNコード:1442-200X(Electronic)1328-8067(Linking) |
掲載区分 | 国外 |
巻・号・頁 | 60(1),pp.67-9 |
著者・共著者 | Matsumoto Masaaki, Awano Hiroyuki, Bo Ryosuke, Nagai Masashi, Tomioka Kazumi, Nishiyama Masahiro, Ninchouji Takeshi, Nagase Hiroaki, Yagi Mariko, Morioka Ichiro, Hasegawa Yuki, Takeshima Yasuhiro, Iijima Kazumoto |
発行年月 | 2018/01 |
概要 | BACKGROUND:Glutaryl carnitine (C5DC) in dried blood spots is used as a biomarker for glutaric aciduria type 1 (GA-1) screening. C5DC, however, is the only screening marker for this condition, and various pathological conditions may interfere with C5DC metabolism. Recently, C5DC elevation has been reported in cases of renal insufficiency.METHOD:Five patients who were positive for GA-1 on newborn screening with tandemmass spectrometry between September 2012 and March 2015 at Kobe University Hospital were enrolled in this study.RESULTS:GA-1 was not confirmed on urinary organic acids analysis in any of the patients. C5DC decreased immediately in four patients, but one patient, who had high C5DC for at least 4 months, was diagnosed with bilateral renal hypoplasia.CONCLUSION:In the case of persistently elevated C5DC, renal insufficiency should be considered as a differential diagnosis. |
DOI | 10.1111/ped.13438 |
PMID | 29059480 |