Karin Pichler1, Sabine Scholl‐Buergi1, Robert Birnbacher2, Michael Freilinger3, Simon Straub1, Jürgen Brunner1, Johannes Zschocke4, Reginald E. Bittner5, Daniela Karall1
1Department of Pediatrics Clinic for Pediatrics I, Medical University of Innsbruck Anichstrasse 35 A‐6020 Innsbruck Austria
2Department of Pediatrics General Hospital Villach Villach Austria
3Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria
4Institute of Human Genetics, Medical University of Innsbruck Innbruck Austria
5Center for Anatomy and Cell Biology Department of Applied Anatomy Medical University of Vienna Vienna Austria
Tóm tắt
ABSTRACTIntroduction: Lipin 1 gene (LPIN1) mutations lead to cellular energy deficiency and cause up to 50% of the rhabdomyolysis episodes seen in pediatric patients. These episodes are associated with poor prognosis, as treatment options have been limited. We propose a novel therapeutic strategy based on prevention and early treatment of catabolism. Methods: Five patients were diagnosed with LPIN1 mutations. They were instructed to maintain high caloric intake in situations possibly leading to catabolism such as viral infections or excessive physical activity. When an episode of rhabdomyolysis occurred, patients were treated with intravenous high‐concentration glucose at first symptoms. Results: The therapeutic strategies described limited the number of rhabdomyolyis episodes, and the duration of episodes was reduced from 7–10 days, as reported in the literature, to 5 days. Conclusion: In this small series, patients with LPIN1 mutations appear to have benefited from prevention and early treatment of catabolism. Muscle Nerve 52:437–439, 2015
