Volume 14 Issue 5
Sep.  2023
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ZHOU Menglan, ZHANG Lei, YE Wenling, GAO Ruitong. Recurrent Rhabdomyolysis and Renal Insufficiency in a Patient with Hemochromatosis[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(5): 1096-1100. doi: 10.12290/xhyxzz.2023-0107
Citation: ZHOU Menglan, ZHANG Lei, YE Wenling, GAO Ruitong. Recurrent Rhabdomyolysis and Renal Insufficiency in a Patient with Hemochromatosis[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(5): 1096-1100. doi: 10.12290/xhyxzz.2023-0107

Recurrent Rhabdomyolysis and Renal Insufficiency in a Patient with Hemochromatosis

doi: 10.12290/xhyxzz.2023-0107

Tsinghua University-Peking Union Medical College Hospital Initiative Scientific Research Program 2019ZLH202

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  • Corresponding author: ZHANG Lei, E-mail: zhanglei55@pumch.cn
  • Received Date: 2023-03-06
  • Accepted Date: 2023-05-23
  • Publish Date: 2023-09-30
  • Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, an autosomal recessive inherited disease, can be classified into three types. Type 3 VLCAD deficiency, also named as delayed intermittent myopathy, is the most common type, which can be manifested as recurrent rhabdomyolysis induced by exercise, infection or hunger. We reported the first case of recurrent rhabdomyolysis since childhood, with renal insufficiency and a history of hemochromatosis. Whole exon sequencing revealed a compound heterozygous mutation of ACADVL gene, consistent with the diagnosis of type 3 VLCAD deficiency. Further, we performed a renal biopsy to clarify the causes of the patient's renal insufficiency, which showed a tubulointerstitial injury with no lipid or iron deposition. Through reviewing the diagnosis and treatment process of this case and literature review, we hope to provide insights for the differential diagnosis of common clinical renal insufficiency induced by rare causes.
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