Tong Ke, Yu Geng-Sheng
Department of Cardiovascular Disease, Children's Hospital of Chongqing Medical University, 136 Zhongshan 2nd Road, Yuzhong District, Chongqing, 400014, China.
Ministry of Education Key Laboratory of Child Development and Disorders, 136 Zhongshan 2nd Road, Yuzhong District, Chongqing, 400014, China.
BMC Neurol. 2021 Jan 29;21(1):42. doi: 10.1186/s12883-021-02050-w.
LPIN1-related acute recurrent rhabdomyolysis (RM), first reported in 2008, is an autosomal recessive inherited metabolic disease. In recent years, LPIN1 gene variants have been identified as one of the main causes of severe RM in children in Western countries. The disease is extremely rare in China, and we report a case of acute recurrent RM caused by a novel compound heterozygous LPIN1 variant.
A 15-year-old Chinese boy presented with myalgia after strenuous exercise, accompanied by transient increases in serum creatine kinase and myoglobin and persistent hyperuricaemia and hyperbilirubinaemia. Genetic analysis using high-throughput genomic sequencing and Sanger sequencing revealed that there was a compound heterozygous variant in the LPIN1 gene of the proband: the paternal c.2047A > G(p.I683V) was an unreported missense variant, and the maternal c.2107_2108 insAGG(p.Q703delin sQE) was an unreported in-frame variant.
In children with RM, LPIN1 variants should always be considered in the differential diagnosis. The clinical features of our case are atypical, which highlights the importance of an accurate diagnosis by genetic testing. If detected early, the condition may be controlled, and the prognosis may be improved.
与LPIN1相关的急性复发性横纹肌溶解症（RM）于2008年首次报道，是一种常染色体隐性遗传代谢疾病。近年来，LPIN1基因变异已被确定为西方国家儿童严重RM的主要病因之一。该疾病在中国极为罕见，我们报告一例由新型复合杂合LPIN1变异引起的急性复发性RM病例。
一名15岁中国男孩在剧烈运动后出现肌痛，伴有血清肌酸激酶和肌红蛋白短暂升高以及持续性高尿酸血症和高胆红素血症。使用高通量基因组测序和桑格测序进行的基因分析显示，先证者的LPIN1基因存在复合杂合变异：父亲的c.2047A>G（p.I683V）是一个未报道的错义变异，母亲的c.2107_2108 insAGG（p.Q703delin sQE）是一个未报道的框内变异。
对于RM患儿，在鉴别诊断时应始终考虑LPIN1变异。我们病例的临床特征不典型，这凸显了通过基因检测进行准确诊断的重要性。如果早期发现，病情可能得到控制，预后可能得到改善。
