Acute renal failure in a patient with phosphofructokinase deficiency

被引：5
|
作者：
Exantus, J
Ranchin, B
Dubourg, L
Touraine, R
Baverel, G
Cochat, P
机构：
[1] Univ Lyon 1, Hop Edouard Herriot, Dept Pediat, F-69437 Lyon 03, France
[2] CHU St Etienne, Hop Nord, Serv Pediat Genet, St Etienne, France
[3] Univ Lyon 1, INSERM, U499, Lab Physiopathol Metab & Renale, F-69365 Lyon, France
来源：
PEDIATRIC NEPHROLOGY | 2004年 / 19卷 / 01期
关键词：
glycogen storage disease (type VII); phosphofructokinase deficiency; acute renal failure; enzymatic myopathies; rhabdomyolysis;
D O I：
10.1007/s00467-003-1321-z
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
A 16-year-old Caucasian girl was admitted to hospital with acute renal failure and hemolytic anemia due to rhabdomyolysis following a 3-km walk. P-31- magnetic resonance spectroscopy provided characteristic spectra of type VII glycogen storage disease (phosphofructokinase deficiency).
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页码：111 / 113
页数：3
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