Literature DB >> 17383055

[Massive rhabdomyolysis revealing a McArdle disease].

A Loupy1, J Pouchot, A Hertig, G Bonnard, E Bouvard, E Rondeau.   

Abstract

INTRODUCTION: McArdle's disease is an autosomal recessive glycogenosis caused by deficiency of muscle glycogen phosphorylase resulting in glycogen accumulation in the skeletal muscle. Typically, McArdle's disease is characterized by exercise intolerance with muscle cramps and myoglobinuria. CASE REPORT: We report a 20-year-old woman with massive rhabdomyolysis and acute renal failure revealing a McArdle's disease. DISCUSSION: Although muscle impairment is constant in McArdle's disease, massive rhabdomyolysis with severe acute renal failure has been rarely reported as a presenting feature. The mechanisms and therapeutic implications of renal injury are discussed.

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Year:  2007        PMID: 17383055     DOI: 10.1016/j.revmed.2007.02.008

Source DB:  PubMed          Journal:  Rev Med Interne        ISSN: 0248-8663            Impact factor:   0.728


  1 in total

1.  Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis.

Authors:  Ayaka Satoh; Shuma Hirashio; Takahiro Arima; Yumi Yamada; Taisuke Irifuku; Haruka Ishibashi; Atsuko Motoda; Yoshimasa Sueda; Takao Masaki
Journal:  CEN Case Rep       Date:  2019-03-21
  1 in total

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