Acute renal failure in a patient with phosphofructokinase deficiency

J Exantus; B Ranchin; L Dubourg; R Touraine; G Baverel; P Cochat

doi:10.1007/s00467-003-1321-z

Acute renal failure in a patient with phosphofructokinase deficiency

Pediatr Nephrol. 2004 Jan;19(1):111-3. doi: 10.1007/s00467-003-1321-z. Epub 2003 Nov 22.

Authors

J Exantus¹, B Ranchin, L Dubourg, R Touraine, G Baverel, P Cochat

Affiliation

¹ Département de Pédiatrie, Hôpital Edouard-Herriot, Université Claude-Bernard, Lyon, France.

PMID: 14634865
DOI: 10.1007/s00467-003-1321-z

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. (31)P-magnetic resonance spectroscopy provided characteristic spectra of type VII glycogen storage disease (phosphofructokinase deficiency).

Publication types

Case Reports

MeSH terms

Acute Kidney Injury / enzymology
Acute Kidney Injury / etiology*
Adolescent
Anemia, Hemolytic / etiology
Diagnosis, Differential
Female
Glycogen Storage Disease Type VII / diagnosis*
Glycogen Storage Disease Type VII / enzymology
Humans
Magnetic Resonance Spectroscopy / methods
Phosphofructokinase-1 / deficiency*
Phosphorus Isotopes
Rhabdomyolysis / etiology

Substances

Phosphorus Isotopes
Phosphofructokinase-1