From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency
被引:1
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作者:
Marques, Cristina
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Santa Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, PortugalSanta Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, Portugal
Marques, Cristina
[1
]
Silva, Catarina
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机构:
Santa Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, PortugalSanta Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, Portugal
Silva, Catarina
[1
]
Silva, Carina
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机构:
Santa Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, PortugalSanta Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, Portugal
Silva, Carina
[1
]
Abreu, Joao Pedro
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机构:
Santa Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, PortugalSanta Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, Portugal
Abreu, Joao Pedro
[1
]
Ribeiro, Marcia
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Santa Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, PortugalSanta Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, Portugal
Ribeiro, Marcia
[1
]
Guimas, Arlindo
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机构:
Ctr Hosp Porto, Internal Med Dept, Porto, PortugalSanta Maria Maior Hosp, Internal Med Dept, Campo Republ 59, P-4750333 Barcelos, Portugal
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
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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.
机构:
Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R China
Kyung Hee Univ, Sch Med, Dept Lab Med, Seoul, South KoreaUniv Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R China
Cho, Sun Young
Siu, Tak-Shing
论文数: 0引用数: 0
h-index: 0
机构:
Queen Mary Hosp, Dept Pathol, Hong Kong, Hong Kong, Peoples R China
Queen Mary Hosp, Clin Biochem Unit, Hong Kong, Hong Kong, Peoples R ChinaUniv Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R China
Siu, Tak-Shing
Ma, Oliver
论文数: 0引用数: 0
h-index: 0
机构:
Queen Mary Hosp, Dept Pathol, Hong Kong, Hong Kong, Peoples R China
Queen Mary Hosp, Clin Biochem Unit, Hong Kong, Hong Kong, Peoples R ChinaUniv Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R China
Ma, Oliver
Tam, Sidney
论文数: 0引用数: 0
h-index: 0
机构:
Queen Mary Hosp, Dept Pathol, Hong Kong, Hong Kong, Peoples R China
Queen Mary Hosp, Clin Biochem Unit, Hong Kong, Hong Kong, Peoples R ChinaUniv Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R China
Tam, Sidney
Lam, Ching-wan
论文数: 0引用数: 0
h-index: 0
机构:
Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaUniv Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R China