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Amiodarone-induced multiple organ damage in an Alström syndrome patient with end-stage renal disease and hepatic cirrhosis

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Abstract

Alström syndrome (AS) is an extremely rare disease accompanied by blindness, hearing loss, obesity, type 2 diabetes, dilated cardiomyopathy, and progressive hepatic and renal dysfunction. The life span of AS patients rarely exceeds 50 years, and thus there are very few reports describing the implementation of renal replacement therapy for these patients. We here report a case of AS patient who exhibited dilated cardiomyopathy, end-stage renal disease, and hepatic cirrhosis. He underwent hemodialysis therapy more than 3 years. Although he eventually died of amiodarone-induced multiple organ damage in the lungs and liver, the present case suggests that hemodialysis therapy can be a choice of renal replacement therapy for AS patients with end-stage renal disease.

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References

  1. Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T. Consensus clinical management guidelines for Alström syndrome. Orphanet J Rare Dis. 2020;15:253.

    Article  Google Scholar 

  2. Tsang SH, Aycinena ARP, Sharma T. Ciliopathy: Alström Syndrome. Adv Exp Med Biol. 2018;1085:179–80.

    Article  Google Scholar 

  3. Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics. 2011;12:225–35.

    Article  CAS  Google Scholar 

  4. Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007;15:1193–202.

    Article  CAS  Google Scholar 

  5. Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, MacDermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005;165:675–83.

    Article  Google Scholar 

  6. Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T. Defining renal phenotype in Alström syndrome. Nephrol Dial Transplant. 2020;35:994–1001.

    Article  CAS  Google Scholar 

  7. Poli L, Arroyo G, Garofalo M, de Janvry EC, Intini G, Saracino A, Pretagostini R, della Pietra F, Berloco PB. . Kidney transplantation in Alström syndrome: case report. Transplant Proc. 2017;49:733–5.

    Article  CAS  Google Scholar 

  8. Awazu M, Tanaka T, Sato S, Anzo M, Higuchi M, Yamazaki K, Matsuo N. Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature. Am J Med Genet. 1997;69:13–6.

    Article  CAS  Google Scholar 

  9. Girard D, Petrovsky N. Alström syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol. 2011;7:77–88.

    Article  CAS  Google Scholar 

  10. Zulato E, Favaretto F, Veronese C, Campanaro S, Marshall JD, Romano S, Cabrelle A, Collin GB, Zavan B, Belloni AS, Rampazzo E, Naggert JK, Abatangelo G, Sicolo N, Maffei P, Milan G, Vettor R. ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis. PLoS ONE. 2011;6:e19081.

    Article  CAS  Google Scholar 

  11. Waldman M, Han JC, Reyes-Capo DP, Bryant J, Carson KA, Turkbey B, Choyke P, Naggert JK, Gahl WA, Marshall JD, Gunay-Aygun M. Alström syndrome: renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center. Mol Genet Metab. 2018;125:181–91.

    Article  CAS  Google Scholar 

  12. Colunga Biancatelli RM, Congedo V, Calvosa L, Ciacciarelli M, Polidoro A, Iuliano L. Adverse reactions of amiodarone. J Geriatr Cardiol. 2019;16:552–66.

    PubMed  PubMed Central  Google Scholar 

  13. Myers JL, Kennedy JI, Plumb VJ. Amiodarone lung: pathologic findings in clinically toxic patients. Hum Pathol. 1987;18:349–54.

    Article  CAS  Google Scholar 

  14. Wolkove N, Baltzan M. Amiodarone pulmonary toxicity. Can Respir J. 2009;16:43–8.

    Article  CAS  Google Scholar 

  15. Rotmensch HH, Belhassen B, Swanson BN, Shoshani D, Spielman SR, Greenspon AJ, Greenspan AM, Vlasses PH, Horowitz LN. Steady-state serum amiodarone concentrations: relationships with antiarrhythmic efficacy and toxicity. Ann Intern Med. 1984;101:462–9.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Division of Endocrinology, Metabolism, and Nephrology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, Japan

    Takuto Torimitsu & Hiroshi Itoh

  2. Aperesis and Dialysis Center, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan

    Tadashi Yoshida & Mototsugu Oya

  3. Department of Pathology, Keio University School of Medicine, Tokyo, Japan

    Satomi Nishi

  4. Department of Urology, Keio University School of Medicine, Tokyo, Japan

    Mototsugu Oya

Authors
  1. Takuto Torimitsu
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  2. Tadashi Yoshida
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  3. Satomi Nishi
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  4. Hiroshi Itoh
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  5. Mototsugu Oya
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Correspondence to Tadashi Yoshida.

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Torimitsu, T., Yoshida, T., Nishi, S. et al. Amiodarone-induced multiple organ damage in an Alström syndrome patient with end-stage renal disease and hepatic cirrhosis. CEN Case Rep 11, 11–16 (2022). https://doi.org/10.1007/s13730-021-00621-x

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  • DOI: https://doi.org/10.1007/s13730-021-00621-x

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