Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases.
Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases.
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DOI：
10.14309/crj.2016.22
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发表时间：
2016-01
影响因子：
0.7
通讯作者：
Nanda R
中科院分区：
文献类型：
--
作者：
Aasen T;Achdjian H;Usta Y;Nanda R
我们报告一位24岁的退伍军人，因转氨酶升高而接受广泛的检查，包括肝活检，但没有发现潜在的病理学改变。随后的检查显示肌酐激酶和醛缩酶升高。该患者后来被诊断为活检证实的dysferlin缺陷型肌营养不良症。尽管肝脏检查阴性，但转氨酶持续升高应提示临床医生考虑酶升高的肝外来源。转氨酶升高与肌肉骨骼病理学的密切相关可能为临床医生提供了一个机会，以检测肌病，如肌营养不良症在其临床前阶段。
We present a 24-year-old combat veteran who underwent extensive work-up for elevated aminotransferases, including liver biopsy, with no underlying pathology identified. Subsequent investigations showed elevated creatinine kinase and aldolase. The patient was later diagnosed with biopsy-proven dysferlin-deficient muscular dystrophy. Persistent transaminase elevation despite negative liver work-up should prompt clinicians to consider extrahepatic sources of enzyme elevation. Promptly correlating aminotransferase elevation with musculoskeletal pathology may present an opportunity for clinicians to detect myopathies such as muscular dystrophy in their preclinical stages.