First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Adult
LPIN1
Next generation sequencing
Rhabdomyolysis
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
03
04
2020
revised:
12
05
2020
accepted:
14
05
2020
pubmed:
12
6
2020
medline:
12
8
2021
entrez:
12
6
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32522502
pii: S0960-8966(20)30120-6
doi: 10.1016/j.nmd.2020.05.004
pii:
doi:
Substances chimiques
LPIN1 protein, human
EC 3.1.3.4
Phosphatidate Phosphatase
EC 3.1.3.4
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
566-571Informations de copyright
Crown Copyright © 2020. Published by Elsevier B.V. All rights reserved.