Open AccessSever Rhabdomyolysis With Normal Renal Function Test in a 29-Year Old Who is Known to have RYR1 Mutation
Author(s) -
Roa A. Ali,
Hassan Naeem
Publication year - 2020
Publication title -
international journal of innovative science and research technology
Language(s) - English
Resource type - Journals
ISSN - 2456-2165
DOI - 10.38124/ijisrt20jul825
Subject(s) - malignant hyperthermia , ryr1 , rhabdomyolysis , myalgia , ryanodine receptor , medicine , mutation , acute kidney injury , congenital myopathy , creatine kinase , myopathy , myoglobinuria , gene , muscle biopsy , genetics , pathology , biology , calcium , biopsy
Ryanodine receptor gene (RYR-1) is a gene encode calcium release channel in skeletal muscle , mutation in this gene lead to rare type of inherited congenital myopathy which is associated with rhabdomyolysis and fatal malignant hyperthermia . We report a case of a 29 year old male known to have sporadic RYR-1 mutation who presented with myalgia and fatigue post upper respiratory tract infection symptoms during COVID19 pandemic .His Creatine Kinase was markedly elevated without evidence of acute kidney injury which is usually uncommon. We also discuss in this case importance of checking CK during COVID19 pandemic .There is no cure for RYR-1 mutation but proper genetic counselling and patient’s education about precipitating factor for malignant hyperthermia will prevent serious complication which can lead to death.