![](/images/graphics-bg.png)
Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency
المؤلفون المشاركون
Eftimov, A.
Vavlukis, M.
Zafirovska, P.
Kedev, S.
Dimovski, A. J.
Pocesta, B.
Caparovska, E.
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-01-19
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Aim.
To raise the awareness of adult-onset carnitite palmitoyltransferase II deficiency (CPT II) by describing clinical, biochemical, and genetic features of the disease occurring in early adulthood.
Method.
Review of the case characteristics and literature review.
Results.
We report on a 20-year-old man presenting with dyspnea, fatigue, fever, and myoglobinuria.
This was the second episode with such symptoms (the previous one being three years earlier).
The symptoms occurred after intense physical work, followed by a viral infection resulting in fever treated with NSAIDs.
Massive rhabdomyolysis was diagnosed, resulting in acute renal failure necessitating plasmapheresis and hemodialysis, acute hepatic lesion, and respiratory insufficiency.
Additionally, our patient had cardiomyopathy with volume overload.
After a detailed workup, CPT II deficiency was suspected.
We did a sequencing analysis for exons 1, 3, and 4 of the CPT II gene and found that the patient was homozygote for Ser 113 Leu mutation in exon 3 of the CPT II gene.
The patient recovery was complete except for the cardiomiopathy with mildly impaired systolic function.
Conclusion.
Whenever a patient suffers recurrent episodes of myalgia, followed by myoglobinuria due to rhabdomyolysis, we should always consider the possibility of this rare condition.
The definitive diagnose of this condition is achieved by genetic testing.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Vavlukis, M.& Eftimov, A.& Zafirovska, P.& Caparovska, E.& Pocesta, B.& Kedev, S.…[et al.]. 2014. Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-476312
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Vavlukis, M.…[et al.]. Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency. Case Reports in Genetics No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-476312
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Vavlukis, M.& Eftimov, A.& Zafirovska, P.& Caparovska, E.& Pocesta, B.& Kedev, S.…[et al.]. Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-476312
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-476312
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
![](/images/ebook-kashef.png)
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
![](/images/kashef-image.png)