From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency

被引:1
作者
Marques, Cristina [1 ]
Silva, Catarina [1 ]
Silva, Carina [1 ]
Abreu, Joao Pedro [1 ]
Ribeiro, Marcia [1 ]
Guimas, Arlindo [2 ]
机构
[1] Santa Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, Portugal
[2] Ctr Hosp Porto, Internal Med Dept, Porto, Portugal
来源
ARCHIVE OF CLINICAL CASES | 2023年 / 10卷 / 01期
关键词
rhabdomyolysis; acute renal failure; hepatitis; CPT II deficiency;
D O I
10.22551/2023.38.1001.10238
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challenging but is essential for the correct treatment. Carnitine palmitoytransferase II (CPT-II) deficiency is the most common long-chain fatty acid oxidation defect, with the adulthood form requiring additional external triggers. The authors present a case of a young-male adult with recurrent episodes of rhabdomyolysis, one of them presented with acute renal failure and acute hepatitis. The diagnostic is demanding, which requires a high level of suspicion. The adequate treatment of these patients improves the muscle function and prevents other episodes of severe rhabdomyolysis.
引用
收藏
页码:42 / 46
页数:5
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