Case Report
The fifty-six-year-old male patient had previously symptoms such as
fatigue, weakness, and muscle cramp since he was 8 years old. When he
was eighteen years old, he was investigated with a pre-diagnosis of
glomerulonephritis when he observed dark urine color as a result of
tonsillitis. No biopsy was performed to the patient at that time.
And additionally, there was no report found which was associated with
the diagnosis of glomerulonephritis.
In the followsup, the patient had symptoms such as fatigue, muscle
cramps following the exercise and there were elevated CK levels and dark
urine caused by myoglobinuria in the laboratory analysis.
The patient, who was evaluated in the neurology department with the
increase of his current complaints at the age of thirty-five, was
diagnosed with myophosphorylase deficiency (McArdle’s disease) after
muscle biopsy and genetic analysis (mutation was detected in the PYGM
gene encoding the myophosphorylase enzyme). Afterward, myophosphorylase
deficiency was detected in the 6 cousins of him following the screening
of the family members in terms of Mcardle disease.
The elevated creatinine level was detected in the follow-ups at the age
of 50. A kidney biopsy was recommended to the patient and the patient
did not accept the kidney biopsy. After the increase in the creatinine
levels, the patient was regularly followed up in our clinic. He was
diagnosed with hypertension during the 6-year follow-up. Besides,
recurrent rhabdomyolysis attacks and CK elevation were observed
(Lifetime more than 50 times). Preparations for preemptive kidney
transplantation were made as the creatinine level of the patient
increased over time.