Finsterer Josef, Aliyev Rahim
Neurological Department, Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, 1180, Austria.
Department of Neurology and Clinical Neurophysiology, Azerbaijan State Advanced Training Institute for Doctors named after A. Aliyev, Baku, Azerbaijan.
F1000Res. 2020 Jan 13;9:15. doi: 10.12688/f1000research.21589.1. eCollection 2020.
In a recent article by Yim , a 15-month-old male is described who experienced severe rhabdomyolysis with a creatine-kinase value (CKV) of 127494 U/l one day after intramuscular injection of an unidentified drug by the general practitioner. Rhabdomyolysis was not attributed to this injected drug but to compound heterozygous variants in LPIN1. The study has a number of shortcomings. Triggers of rhabdomyolysis should be unequivocally identified, a more extensive family history should be taken, and previous CKVs should be provided. Functional and biochemical tests should be carried out to confirm or exclude pathogenicity of the LPIN1 variants.
在Yim最近发表的一篇文章中，描述了一名15个月大的男性，他在全科医生给他肌肉注射一种不明药物一天后，出现了严重的横纹肌溶解，肌酸激酶值（CKV）为127494 U/l。横纹肌溶解并非归因于这种注射药物，而是由LPIN1基因的复合杂合变异所致。该研究存在一些不足之处。横纹肌溶解的诱因应明确确定，应获取更详尽的家族病史，并应提供既往的CKV值。应进行功能和生化测试，以确认或排除LPIN1变异的致病性。
