AI Article Synopsis
- LPIN1 mutations are linked to severe childhood rhabdomyolysis, with the first episode typically occurring before age 5 and a significant mortality rate (about 33%).
- Two cases are detailed where rhabdomyolysis appeared later in life (at ages 11 and 40), triggered by Parvovirus and metabolic stress respectively, indicating varying disease severity.
- The study suggests that different mutation types, environmental factors, and similar proteins may influence the timing of rhabdomyolysis onset, highlighting the need to test for LPIN1 mutations in adults with this condition.
Article Abstract
LPIN1 mutations are a known common cause of autosomal recessive, recurrent and life-threatening acute rhabdomyolysis of childhood-onset. The first episode of rhabdomyolysis usually happens in nearly all cases before the age of 5 and death is observed in 1/3 of patients. Here we present two cases of acute rhabdomyolysis with a milder phenotype caused by LPIN1 mutation presenting in adolescence (11 years old) and adulthood (40 years old) after Parvovirus infection and metabolic stress, respectively. In our opinion, the mutation types, epigenetic factors, the environment exposition to triggers or the existence of proteins with a similar structure of LPIN1, may have a role in modulating the onset of rhabdomyolysis. LPIN1 should be included on a panel of genes analysed in the investigation of adult individuals with rhabdomyolysis. Metabolic and viral stressors should be included in the list of possible rhabdomyolysis precipitant.
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| http://dx.doi.org/10.1016/j.nmd.2020.05.004 | DOI Listing |
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