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Journal of Pediatrics Review، جلد ۱۳، شماره ۲، صفحات ۱۱۹-۱۲۴
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Examining the Novel Nonsense Variant of the TANGO2 Gene in a Child With Rhabdomyolysis: Diagnostic Insights
چکیده انگلیسی مقاله Background: Rhabdomyolysis is characterized by the breakdown of muscle fibers, with serum creatine phosphokinase (CPK) serving as the key diagnostic marker. In pediatric cases, it is often linked to viral infections or trauma, but genetic causes like TANGO2 mutations may be suspected when triggers are absent.
Case Presentation: A 4-year-old boy presented with cola-colored urine, muscle cramps, diarrhea, and nausea. Laboratory tests showed blood (++), no red blood cells, elevated liver enzymes, and slightly elevated CPK levels. Suspected rhabdomyolysis was confirmed using the dilution method for CPK measurement. After excluding common causes, whole genome sequencing revealed TANGO2 deficiency.
Conclusions: Accurate enzyme measurement using dilution is critical in suspected rhabdomyolysis. Genetic causes, such as TANGO2 deficiency, should be considered when typical triggers are absent in pediatric cases.
کلیدواژه‌های انگلیسی مقاله TANGO2 deficiency, Rhabdomyolysis, Creatine phosphokinase
نویسندگان مقاله | Zahra Pournasiri
Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.


| Arefeh Zahmatkesh
Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.


| Neda Ghorbani-khosroshahi
Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.


| Mohammad Saberi
Department of Medical Genetics, School of Medicine, Tehran University of Medical Science, Tehran, Iran.
نشانی اینترنتی http://jpr.mazums.ac.ir/browse.php?a_code=A-10-1266-1&slc_lang=en&sid=1
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کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Pediatrics
نوع مقاله منتشر شده Case & Review
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