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
Funds:

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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  • [1] Nakayama M, Kaizu Y, Uesugi N, et al. A case of IgA nephropathy and renal hemosiderosis associated with primary hemochromatosis[J]. Ren Fail, 2008, 30: 813-817. doi:  10.1080/08860220802249033
    [2] 张抒扬. 中国第一批罕见病目录释义[M]. 北京: 人民卫生出版社, 2018: 364-366.
    [3] Marsden D, Bedrosian CL, Vockley J. Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders[J]. Genet Med, 2021, 23: 816-829. doi:  10.1038/s41436-020-01070-0
    [4] 国家卫生健康委员会, 科学技术部, 工业和信息化部, 等. 关于公布第一批罕见病目录的通知[EB/OL]. (2018-06-08)[2023-03-06]. http://www.nhc.gov.cn/yzygj/s7659/201806/393a9a37f39c4b458d6e830f40a4bb99.shtml.
    [5] Yamada K, Taketani T. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency[J]. J Hum Genet, 2019, 64: 73-85. doi:  10.1038/s10038-018-0527-7
    [6] Ahmed A, de Buitleir C, Elsheik N, et al. Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis[J]. Ir Med J, 2022, 115: 565.
    [7] Zhang RN, Li YF, Qiu WJ, et al. Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency[J]. World J Pediatr, 2014, 10: 119-125. doi:  10.1007/s12519-014-0480-2
    [8] 张抒扬. 罕见病诊疗指南[M]. 北京: 人民卫生出版社, 2019: 603-608.
    [9] Fatehi F, Okhovat AA, Nilipour Y, et al. Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)[J]. Eur J Neurol, 2020, 27: 2257-2266. doi:  10.1111/ene.14402
    [10] Bosch X, Poch E, Grau JM. Rhabdomyolysis and acute kidney injury[J]. N Engl J Med, 2009, 361: 62-72. doi:  10.1056/NEJMra0801327
    [11] Boudhabhay I, Poillerat V, Grunenwald A, et al. Complement activation is a crucial driver of acute kidney injury in rhabdomyolysis[J]. Kidney Int, 2021, 99: 581-597. doi:  10.1016/j.kint.2020.09.033
    [12] Neyra JA, Rocha NA, Bhargava R, et al. Rhabdomyolysis-induced acute kidney injury in a cancer patient exposed to denosumab and abiraterone: a case report[J]. BMC Nephrol, 2015, 16: 118. doi:  10.1186/s12882-015-0113-6
    [13] Donati G, Abenavoli C, Vischini G, et al. Sickle Cell Trait and SARS-CoV-2-Induced Rhabdomyolysis: A Case Report[J]. Am J Case Rep, 2022, 23: e934220.
    [14] Olynyk JK, Ramm GA. Hemochromatosis[J]. N Engl J Med, 2022, 387: 2159-2170. doi:  10.1056/NEJMra2119758
    [15] Kane SF, Roberts C, Paulus R. Hereditary Hemochromato-sis: Rapid Evidence Review[J]. Am Fam Physician, 2021, 104: 263-270.
    [16] Okumura A, Kondo K, Hirai C, et al. Nephrogenic diabetes insipidus associated with hemochromatosis[J]. Am J Kidney Dis, 2002, 40: 403-406. doi:  10.1053/ajkd.2002.34540
    [17] Bonilla SF, Melin-Aldana H, Whitington PF. Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis[J]. Pediatr Res, 2010, 67: 188-193. doi:  10.1203/PDR.0b013e3181c2df69
    [18] Ozkurt S, Acikalin MF, Temiz G, et al. Renal hemosi-derosis and rapidly progressive glomerulonephritis associated with primary hemochromatosis[J]. Ren Fail, 2014, 36: 814-816. doi:  10.3109/0886022X.2014.892391
    [19] Hasegawa T, Hori N, Du W. A case of impairment of mitochondrial fatty acid beta-oxidation[J]. Keio J Med, 2002, 51: 100-106.
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