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2017 ; 6
(2
): 156-160
Nephropedia Template TP
gab.com Text
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English Wikipedia
McArdle disease: a "pediatric" disorder presenting in an adult with acute kidney
injury
#MMPMID28660497
Zhao X
; Li A
; Soni M
; Muriello MJ
; Jones CH
; Whittier WL
CEN Case Rep
2017[Nov]; 6
(2
): 156-160
PMID28660497
show ga
Rhabdomyolysis is characterized by the acute breakdown of skeletal muscle,
resulting in the release of muscle cell contents, subsequent myoglobinuria, and
in severe cases, acute renal failure. A number of etiologies have been identified
in acute rhabdomyolysis, in which drugs and trauma account for the majority of
cases. One etiological category that is commonly overlooked in the adult
population is an underlying genetic defect. This may be challenging to diagnose
due to its rarity in the adult demographic and the marked heterogeneity, often
requiring a high level of clinical suspicion before investigation is pursued.
Once diagnosed, however, appropriate steps can be taken to reduce future episodes
of rhabdomyolysis, further renal injury, and other systemic complications. Here,
we report a case of an adult patient presenting with acute rhabdomyolysis
secondary to McArdle disease, a genetic disease causing defective glycogenolysis.
The case highlights the importance of recognizing the potential of undiagnosed
"pediatric" disorders in adulthood and particularly for underlying genetic causes
of rhabdomyolysis.