Kanderi Navya, Kirmse Brian, Regier Debra S, Chapman Kimberly A
Children's National Rare Disease Institute, Washington, DC, United States of America.
Howard University Medical School, Washington, DC, United States of America.
Mol Genet Metab Rep. 2022 Feb 5;30:100844. doi: 10.1016/j.ymgmr.2022.100844. eCollection 2022 Mar.
Individuals with deficiency have early recurrent, life-threatening rhabdomyolysis but the full phenotypic spectrum and optimal treatment of the disorder remains unknown. Here we report the clinical details and treatment outcomes of 6 patients from our health system. The average age of presentation in our cohort was 23.8 months ±11.6 months (range 15-46 months). The average number of days for each hospitalization for this cohort is 11.7±13.2 days. Creatinine kinase (CK) levels peak during our care averaged 607,725 units/L (range 157,000-1,100,000 units/L). We observed that aspartate aminotransferase levels paralleled the CK levels in its elevation and resolution (Pearson's correlation = 0.995); while alanine aminotransferase paralleled the elevation but lagged in the resolution of CK levels ( = 0.728). Unlike historical accounts, in our patient population, rhabdomyolysis was sometimes seen without inciting viral or traumatic events. We also cared for multiple individuals that had received treatment at other centers. This allowed us to compare multiple practice approaches and led to a standardized Care Recommendations.
患有该缺陷的个体早期会反复出现危及生命的横纹肌溶解症，但该疾病的完整表型谱和最佳治疗方法仍不清楚。在此，我们报告了来自我们医疗系统的6例患者的临床细节和治疗结果。我们队列中的平均就诊年龄为23.8个月±11.6个月（范围15 - 46个月）。该队列每次住院的平均天数为11.7±13.2天。在我们治疗期间，肌酸激酶（CK）水平峰值平均为607,725单位/升（范围157,000 - 1,100,000单位/升）。我们观察到，天冬氨酸转氨酶水平在升高和恢复过程中与CK水平平行（皮尔逊相关性 = 0.995）；而丙氨酸转氨酶水平与CK水平的升高平行，但在CK水平恢复方面滞后（ = 0.728）。与以往报道不同的是，在我们的患者群体中，有时在没有诱发病毒感染或创伤事件的情况下也会出现横纹肌溶解症。我们还护理了多名在其他中心接受过治疗的患者。这使我们能够比较多种治疗方法，并得出标准化的护理建议。
