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Dergiler / Abant Tıp Dergisi / 2025 / Cilt: 14 Sayı: 3

Recurrent Rhabdomyolysis after Kidney Transplant in Adult-Onset VLCAD Deficiency

Beyhan Güvercin(Karadeniz teknik üniversitesi)0000-0003-4157-4513
Büşra Korkmaz Baki(KARADENIZ TECHNICAL UNIVERSITY)0009-0004-2414-505X
Sayfa
230–233
Yayın Tarihi
2025-12-30
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

We planned to discuss the case with the literature in order to emphasize that metabolic myopathies should also be evaluated in the etiology of patients who develop acute renal failure presenting with recurrent non-traumatic exercise-associated rhabdomyolysis.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a hereditary disorder of mitochondrial long-chain fatty acid oxidation.
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Temel Bulgular & Veri:A 29-year-old male patient with hypertension, arrhythmia, and preemptive renal transplantation history was admitted to our clinic with complaints of recurrent hematuria attacks, body pain, and dizziness.
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Sonuç & Katkı:We planned to discuss the case with the literature in order to emphasize that metabolic myopathies should also be evaluated in the etiology of patients who develop acute renal failure presenting with recurrent non-traumatic exercise-associated rhabdomyolysis.
🔬Tür:Olgu Sunumu
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Rhabdomyolysis · Very Long-Chain Acyl-CoA Dehydrogenase · Kidney Transplant

Abstract

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a hereditary disorder of mitochondrial long-chain fatty acid oxidation. It is a syndrome characterized by rhabdomyolysis, muscle necrosis, and release of intracellular muscle components into the circulation. A 29-year-old male patient with hypertension, arrhythmia, and preemptive renal transplantation history was admitted to our clinic with complaints of recurrent hematuria attacks, body pain, and dizziness. No erythrocytes were observed in the microscopic field of urine sediment. In genetic analysis, a homozygous mutation was detected in the ACADVL gene in the NM_000018.4 C.1500_1502del CCT p. L502del variation, and VLCAD deficiency was diagnosed. We planned to discuss the case with the literature in order to emphasize that metabolic myopathies should also be evaluated in the etiology of patients who develop acute renal failure presenting with recurrent non-traumatic exercise-associated rhabdomyolysis.

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Bu Makaleye Atıf Yap

Güvercin, B., Baki, B. K. (2025). Recurrent Rhabdomyolysis after Kidney Transplant in Adult-Onset VLCAD Deficiency. Abant Tıp Dergisi, Cilt: 14 Sayı: 3, 230–233. https://doi.org/10.47493/abantmedj.1705660

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Kaynakça (10)

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