Key result
The detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis, as an unidentified intramuscular injection may have been the trigger.
Detection of compound heterozygous variants in LPIN1 requires functional and biochemical confirmation before attributing pathogenicity in cases of rhabdomyolysis with other potential triggers.
, a 15-month-old male is described who experienced severe rhabdomyolysis with a creatine-kinase value (CKV) of 127494 U/l one day after intramuscular injection of an unidentified drug by the general practitioner. Rhabdomyolysis was not attributed to this injected drug but to compound heterozygous variants in LPIN1. The study has a number of shortcomings. Triggers of rhabdomyolysis should be unequivocally identified, a more extensive family history should be taken, and previous CKVs should be provided. Functional and biochemical tests should be carried out to confirm or exclude pathogenicity of the LPIN1 variants.
No takes yet. Share an insight, caveat, or question.
Finsterer et al. (2020) conducted a letter in Rhabdomyolysis (n=1). LPIN1 compound heterozygous variants was evaluated. The detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis, as an unidentified intramuscular injection may have been the trigger.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: