Articles
CASE REPORT
Transaminitis in a Three-year-old Boy with Duchenne Muscular Dystrophy
Qiuli Xie, Yingen Feng, Jing Li, Xiaoqiao Chen and ianqiang Ding*,
Department of Infectious Diseases, Shunde Hospital, Southern Medical University, Shunde, Guangdong, China
*Correspondence to: Jianqiang Ding, Department of Infectious Diseases, Shunde Hospital, Southern Medical University, #1 Jiazi Road, Shunde, Guangdong 528300, China. Tel: +86-757-22318693, Fax: +86-757-22223899, E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.
Journal of Clinical and Translational Hepatology 2020;8(4):474-475 DOI: 10.14218/JCTH.2020.00038
Received: April 30, 2020 Accepted: September 5, 2020 Published online: October 10, 2020
Abstract
Duchenne muscular dystrophy (DMD) is a fatal X-linked genetic disease of the neuromuscular system and is the most serious type of muscular dystrophy in humans. The disease is characterized by progressive muscular atrophy and a poor prognosis. The incidence rate is 1/3500, and symptoms appear at age of 5 years-old. Some patients present with abnormal aminotransferases as the first symptom. In addition to the clinical characteristics and genetic history, electromyography examination, muscle biopsy, serum enzyme examination, and measures of creatine kinase (CK), CK isoenzyme, and serum lactate dehydrogenase are important features of auxiliary examination. Clinicians who encounter unknown causes of transaminitis should consider the possibility of DMD. We describe here a 3 year-old pediatric patient with increased aminotransferases who had elevated CK and a family genetic history but without liver damage on computed tomography. He was suspected as having inherited the disorder and was finally diagnosed as having DMD by next-generation sequencing.
Keywords
Transaminitis, Duchenne muscular dystrophy, Gene sequencing
Journal of Clinical and Translational Hepatology 2020 vol. 8, 474-475 [ Html ] [ PDF Full-text ]
© The Authors 2020. This article is published under the terms of the Creative Commons Attribution-Noncommercial License (CC BY-NC 4.0), which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license.
