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.

中文翻译：

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青春期和成年期 LPIN1 急性横纹肌溶解症的首次表现

LPIN1 突变是儿童期发病的常染色体隐性、复发性和危及生命的急性横纹肌溶解症的已知常见原因。横纹肌溶解症的第一次发作通常发生在几乎所有病例 5 岁之前，并且在 1/3 的患者中观察到死亡。在这里，我们介绍了两例急性横纹肌溶解症，其表型较轻，由 LPIN1 突变引起，分别出现在细小病毒感染和代谢应激后的青春期（11 岁）和成年期（40 岁）。在我们看来，突变类型、表观遗传因素、触发条件的环境暴露或与 LPIN1 结构相似的蛋白质的存在，可能在调节横纹肌溶解的发生中起作用。LPIN1 应包括在对横纹肌溶解症成年个体进行调查分析的一组基因中。