Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature
المؤلفون المشاركون
Perera, Rasika
Indika, Neluwa Liyanage Ruwan
Vidanapathirana, Dinesha Maduri
Jasinge, Eresha
Waduge, Roshitha
Shyamali, Narangoda Liyanage Ajantha
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-05-28
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Phosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene.
Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders.
We report a case of a 32-year-old Sri Lankan female with a history of more than 10 episodes of rhabdomyolysis and exercise intolerance since childhood.
These episodes were triggered by infections and exercise.
A temporal relationship between the acute episodes and use of drugs such as theophylline, mefenamic acid, co-trimoxazole, and combined oral contraceptive pills was also noted.
There was marked elevation of serum creatine kinase and transaminases during acute episodes.
Family history revealed parental consanguinity and an affected sibling who died of an acute episode associated with muscle weakness, dark coloured urine, and cyanosis, at the age of 2 years.
The histochemical findings of the patient under discussion were consistent with a metabolic myopathy affecting membrane integrity.
A homozygous, likely pathogenic variant c.1684G>T encoding p.(Glu562∗) was identified by clinical exome sequencing.
Even though the studies to date give no convincing evidence of a possible causal or contributory relationship between the drugs under discussion and lipin-1 related rhabdomyolysis, this case highlights the importance of pharmacovigilance and reporting adverse drug reactions in patients with lipin-1 deficiency.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Indika, Neluwa Liyanage Ruwan& Vidanapathirana, Dinesha Maduri& Jasinge, Eresha& Waduge, Roshitha& Shyamali, Narangoda Liyanage Ajantha& Perera, Rasika. 2020. Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature. Case Reports in Medicine،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1148625
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Indika, Neluwa Liyanage Ruwan…[et al.]. Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature. Case Reports in Medicine No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1148625
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Indika, Neluwa Liyanage Ruwan& Vidanapathirana, Dinesha Maduri& Jasinge, Eresha& Waduge, Roshitha& Shyamali, Narangoda Liyanage Ajantha& Perera, Rasika. Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature. Case Reports in Medicine. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1148625
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1148625
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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