Departments of Pediatric Intensive Care Unit, Dr. Behcet Uz Children's Diseases and Surgery Training and Research Hospital, İzmir.
Pediatric Metabolism and Nutrition, Dr. Behcet Uz Children's Diseases and Surgery Training and Research Hospital, İzmir.
Turk J Pediatr. 2020;62(4):647-651. doi: 10.24953/turkjped.2020.04.015.
Rhabdomyolysis; can occur due to toxic, infectious, metabolic, and genetic causes. Severe rhabdomyolysis may progress to several clinical manifestations such as cardiac arrest and may pose a risk of mortality if it is not treated timely.
In this article, we presented a 26-month-old patient who was admitted with an acute rhabdomyolysis attack and a venovenous hemodiafiltration (CVVHDF) was initiated on the 5th hour of hospitalization. Creatine kinase (CK) levels of the patient continued to increase (max: 943 452 IU/L) until the 5th day of treatment and hereafter began to decrease. As the common causes of rhabdomyolysis were excluded and the CK levels were the highest values reported in the literature, although, LPIN1 deficiency was the most suspected diagnosis, to facilitate the diagnostic procedures a whole-exome sequencing was performed. A homozygous [c.1696G > C p. (Asp566His)] mutation was detected on LPIN1 gene. This variant has not been described previously, however, when examined with programs such as SIFT and Mutation taster, it has been considered as pathogenic.
In the pediatric age group, especially in infants presenting with severe rhabdomyolysis, LPIN1 deficiency should also be considered; as early diagnosis and appropriate treatment may reduce mortality.
横纹肌溶解症；可由毒性、感染、代谢和遗传原因引起。严重的横纹肌溶解症可能进展为多种临床表现，如心脏骤停，如果不及时治疗，可能有死亡风险。
本文报道了 1 例 26 月龄患儿，因急性横纹肌溶解症入院，入院第 5 小时开始行静脉-静脉血液透析滤过（CVVHDF）。患者的肌酸激酶（CK）水平持续升高（最高：943452IU/L），直至治疗第 5 天，此后开始下降。由于排除了常见的横纹肌溶解症病因，且 CK 水平为文献中报道的最高值，尽管 LPIN1 缺乏症最可疑，但为了便于诊断程序，进行了全外显子组测序。在 LPIN1 基因上检测到杂合子 [c.1696G > C p. (Asp566His)] 突变。该变异尚未被先前描述，但当使用 SIFT 和 Mutation taster 等程序进行检查时，被认为是致病性的。
在儿科年龄组，尤其是出现严重横纹肌溶解症的婴儿，也应考虑 LPIN1 缺乏症；早期诊断和适当治疗可能降低死亡率。
