LPIN1 Mutation-Associated Rhabdomyolysis
What is LPIN1 mutation-associated rhabdomyolysis?
Autosomal recessive LPIN1 mutations have been recently described as a cause of rhabdomyolysis in a few families.
Rhabdomyolysis is the rapid destruction of skeletal muscle resulting in leakage into the urine of the muscle protein myoglobin.
What are the symptoms of LPIN1 mutation-associated rhabdomyolysis?
- Symptoms of kidney failure, which may include swelling of the hands and feet
- Shortness of breath as excess fluid builds up in the lungs
- Weakness and lethargy
- Symptoms of hyperkalemia (elevations in potassium in the blood) such as weakness, nausea, lightheadedness, and palpitations due to heart rhythm disturbances)
- Disseminated intravascular coagulation, or a disruption of the normal blood clotting process, may occur as unexplained bleeding
What are the treatments for LPIN1 mutation-associated rhabdomyolysis?
Treatment involves the IV administration of fluids and high caloric/high carb intake i.e. glucose.
There is currently no cure.