Huang Linlin, Shi Ting, Li Ying, Li Xiaozhong
Pediatric Intensive Care Unit, Children's Hospital of Soochow University, Suzhou, China.
Department of Epidemiology, Children's Hospital of Soochow University, Suzhou, China.
Nephron. 2021;145(6):770-775. doi: 10.1159/000515012. Epub 2021 Jul 9.
This is a case report of a girl with glutaric acidemia type I (GA-I) who experienced rhabdomyolysis and acute kidney injury (AKI). Her first acute metabolic crisis occurred at the age of 5 months, which mainly manifested as irritable crying, poor appetite, and hyperlactatemia. Mutation analysis showed 2 pathogenic mutations in the glutaryl-CoA dehydrogenase (GCDH) gene, which were c.383G>A (p.R128Q) and c.873delC (p.N291Kfs41), the latter of which is a novel frameshift mutation of GA-I. She had a febrile illness at the age of 12 months, followed by AKI and severe rhabdomyolysis. Four days of continuous venovenous hemodiafiltration (CVVHDF) helped to overcome this acute decompensation. This case report describes a novel mutation in the GCDH gene, that is, c.873delC (p.N291Kfs41). Also, it highlights the fact that patients with GA-I have a high risk of rhabdomyolysis and AKI, which may be induced by febrile diseases and hyperosmotic dehydration; CVVHDF can help to overcome this acute decompensation.
这是一例患有I型戊二酸血症（GA-I）的女孩发生横纹肌溶解和急性肾损伤（AKI）的病例报告。她的首次急性代谢危机发生在5个月大时，主要表现为易激惹哭闹、食欲不佳和高乳酸血症。突变分析显示戊二酰辅酶A脱氢酶（GCDH）基因存在2个致病突变，分别为c.383G>A（p.R128Q）和c.873delC（p.N291Kfs41），后者是GA-I的一种新型移码突变。她在12个月大时患了发热性疾病，随后出现AKI和严重横纹肌溶解。持续4天的连续性静脉-静脉血液透析滤过（CVVHDF）有助于克服这种急性失代偿。本病例报告描述了GCDH基因中的一种新型突变，即c.873delC（p.N291Kfs41）。此外，它强调了GA-I患者有发生横纹肌溶解和AKI的高风险，这可能由发热性疾病和高渗性脱水诱发；CVVHDF有助于克服这种急性失代偿。
