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Войти в исследования Pediatrics international : official journal of the Japan Pediatric Society · 2017
Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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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
Аннотация
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 tandem mass 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.
METHOD: Five patients who were positive for GA-1 on newborn screening with tandem mass 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.