Department of Pediatrics, Neurology Section, University of Colorado Anschutz Medical Campus, School of Medicine, Children's Hospital Colorado, Aurora, CO, USA.
J Am Board Fam Med. 2012 Jul-Aug;25(4):536-40. doi: 10.3122/jabfm.2012.04.110183.
The transaminases alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are markers of hepatocellular injury but are highly concentrated in muscle cells. Consequently, muscular dystrophies such as Duchenne muscular dystrophy, lead to hypertransaminasemia. Elevation in ALT and AST is most striking during the early stages of disease, before onset of or when only subtle signs of muscle disease are present. Thus, the incidental finding of elevated ALT/AST may be the presenting sign of muscle disease in many children and provides an opportunity for early diagnosis. Many physicians, however, pursue extensive workup for liver disease in children who present with the incidental finding of elevated ALT/AST. This results in delayed diagnosis and initiation of treatment and increased expense and may lead to unnecessary invasive procedures. We report 12 patients with muscle disease who presented with a variety of symptoms and were found to have an incidental finding of elevated ALT/AST. We propose a rapid screening process for evaluating children with the incidental finding of elevated ALT/AST to shorten the time to diagnosis of muscle disease.
氨基转移酶丙氨酸氨基转移酶（ALT）和天冬氨酸氨基转移酶（AST）是肝细胞损伤的标志物，但它们在肌肉细胞中高度集中。因此，肌营养不良症（如杜氏肌营养不良症）会导致高氨基转移酶血症。在疾病的早期阶段，在肌肉疾病发作之前或仅出现轻微的肌肉疾病迹象时，ALT 和 AST 升高最为明显。因此，ALT/AST 升高的偶然发现可能是许多儿童肌肉疾病的首发表现，并为早期诊断提供了机会。然而，许多医生在儿童偶然发现 ALT/AST 升高时，会对肝脏疾病进行广泛的检查。这导致诊断和治疗的延迟，增加了费用，并可能导致不必要的侵入性操作。我们报告了 12 例患有肌肉疾病的患者，他们表现出各种症状，偶然发现 ALT/AST 升高。我们提出了一种快速筛选过程，用于评估 ALT/AST 升高的偶然发现的儿童，以缩短肌肉疾病的诊断时间。
