Skip to main content
Top
Published in: Pediatric Nephrology 1/2004

01-01-2004 | Brief Report

Acute renal failure in a patient with phosphofructokinase deficiency

Authors: J. Exantus, B. Ranchin, L. Dubourg, R. Touraine, G. Baverel, P. Cochat

Published in: Pediatric Nephrology | Issue 1/2004

Login to get access

Abstract

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. 31P-magnetic resonance spectroscopy provided characteristic spectra of type VII glycogen storage disease (phosphofructokinase deficiency).
Literature
1.
go back to reference Chen Y-T, Burchell A (1995) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 935–965 Chen Y-T, Burchell A (1995) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 935–965
2.
go back to reference Scheinman JI (1999) Glycogen storage disease. In: Barratt TM, Avner ED, Harmon WE (eds) Pediatric nephrology, 4th edn. Lippincott Williams and Wilkins, Baltimore, pp 621–624 Scheinman JI (1999) Glycogen storage disease. In: Barratt TM, Avner ED, Harmon WE (eds) Pediatric nephrology, 4th edn. Lippincott Williams and Wilkins, Baltimore, pp 621–624
3.
go back to reference Hue V, Martinot A, Fourier C, Cremer R, Leteurtre S, Leclerc F (1998) Rhabdomyolyses aiguës de l’enfant. Arch Pediatr 5:887–895CrossRefPubMed Hue V, Martinot A, Fourier C, Cremer R, Leteurtre S, Leclerc F (1998) Rhabdomyolyses aiguës de l’enfant. Arch Pediatr 5:887–895CrossRefPubMed
4.
go back to reference Drouet A, Guilloton L, Ribot C (1999) Le syndrome d’intolérance musculaire à l’exercice. Quel bilan proposer et comment l’organiser? Semin Hôp Paris 75:334–340 Drouet A, Guilloton L, Ribot C (1999) Le syndrome d’intolérance musculaire à l’exercice. Quel bilan proposer et comment l’organiser? Semin Hôp Paris 75:334–340
5.
go back to reference Sarnat HB (2000) Glycogenosis. In: Behrman RE, Kliezman RM, Jenson HB (eds) Nelson textbook of pediatrics, 16th edn. Saunders, Philadelphia, pp 1883–1884 Sarnat HB (2000) Glycogenosis. In: Behrman RE, Kliezman RM, Jenson HB (eds) Nelson textbook of pediatrics, 16th edn. Saunders, Philadelphia, pp 1883–1884
6.
go back to reference Fernandes J, Smith GPA (2000) The glycogen-storage diseases. In: Fernandes J, Saudubray JM, Berghe G van den (eds) Inborn metabolic diseases—diagnosis and treatment, 3rd edn. Springer, Heidelberg Berlin New York, pp 87–101 Fernandes J, Smith GPA (2000) The glycogen-storage diseases. In: Fernandes J, Saudubray JM, Berghe G van den (eds) Inborn metabolic diseases—diagnosis and treatment, 3rd edn. Springer, Heidelberg Berlin New York, pp 87–101
7.
go back to reference Farmer PM (1982) Laboratory diagnosis of the neuromuscular glycogen storage diseases. Ann Clin Lab Sci 12:431–438PubMed Farmer PM (1982) Laboratory diagnosis of the neuromuscular glycogen storage diseases. Ann Clin Lab Sci 12:431–438PubMed
8.
go back to reference Lin HC, Young C, Wang PJ, Shen YZ (1999) Muscle phosphofructokinase deficiency (Tarui’s disease): report of a case. J Formos Med Assoc 98:205–208PubMed Lin HC, Young C, Wang PJ, Shen YZ (1999) Muscle phosphofructokinase deficiency (Tarui’s disease): report of a case. J Formos Med Assoc 98:205–208PubMed
9.
go back to reference Moerman P, Lammens M, Fryns JP, Lemmens F, Lauweryns JM (1995) Fetal akinesia sequence caused by glycogenosis type VII. Genet Couns 6:15–20PubMed Moerman P, Lammens M, Fryns JP, Lemmens F, Lauweryns JM (1995) Fetal akinesia sequence caused by glycogenosis type VII. Genet Couns 6:15–20PubMed
10.
go back to reference Fox IH, Padella TI, Kelley WN (1984). Hyperuricemia: a marker for cell energy crisis. N Engl J Med 314:111–112 Fox IH, Padella TI, Kelley WN (1984). Hyperuricemia: a marker for cell energy crisis. N Engl J Med 314:111–112
11.
go back to reference Wang HT, Kao KP, Wang SR, Tsai CY, Haung DF (1996) Gouty arthritis and chronic renal insufficiency in a patient with glycogen storage disease of the muscle-energy group. Aust N Z J Med 26:418–419PubMed Wang HT, Kao KP, Wang SR, Tsai CY, Haung DF (1996) Gouty arthritis and chronic renal insufficiency in a patient with glycogen storage disease of the muscle-energy group. Aust N Z J Med 26:418–419PubMed
Metadata
Title
Acute renal failure in a patient with phosphofructokinase deficiency
Authors
J. Exantus
B. Ranchin
L. Dubourg
R. Touraine
G. Baverel
P. Cochat
Publication date
01-01-2004
Publisher
Springer-Verlag
Published in
Pediatric Nephrology / Issue 1/2004
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-003-1321-z

Other articles of this Issue 1/2004

Pediatric Nephrology 1/2004 Go to the issue