A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey

Topal S., Kose M. D., Agin H., Sari F., Colak M., Atakul G., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.4, ss.647-651, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.24953/turkjped.2020.04.015
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.647-651
  • Anahtar Kelimeler: creatine kinase, rhabdomyolysis, LPIN1 deficiency
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background. Rhabdomyolysis; can occur due to toxic, infectious, metabolic, and genetic causes. Severe rhabdomyolysis may progress to several clinical manifestations such as cardiac arrest and may pose a risk of mortality if it is not treated timely.