Acute renal failure in McArdle's disease

Area of Science:

• Nephrology
• Neuromuscular Disorders
• Biochemistry

Background:

• McArdle's disease, a glycogen storage disease type V, results from myophosphorylase deficiency.
• This deficiency leads to exercise intolerance and muscle breakdown (rhabdomyolysis).
• Acute kidney injury is a known complication of severe rhabdomyolysis.

Observation:

• A case study of an adult patient with diagnosed McArdle's disease is presented.
• The patient experienced reversible acute renal failure.
• Myoglobinuria, indicated by dark urine, was observed and suspected as the cause of kidney damage.

Findings:

• Intravenous urography may have exacerbated the myoglobinuria and subsequent renal impairment.
• Muscle biopsy revealed necrotic muscle fibers.
• Histochemical analysis showed a lack of phosphorylase activity in the muscle tissue.
• Ultrastructural examination of the muscle biopsy indicated nonspecific degenerative changes.

Implications:

• This case highlights the potential for acute renal failure in McArdle's disease patients.
• It underscores the importance of cautious diagnostic procedures, such as avoiding intravenous contrast agents if possible.
• The findings suggest that renal function impairment in this context is potentially reversible with appropriate management.