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Arterial calcification due to CD73 deficiency (ACDC): imaging manifestations of ectopic mineralization

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Abstract

Arterial calcification due to CD73 deficiency (ACDC) is a recently identified rare and debilitating adult-onset disorder caused by autosomal recessive NT5E gene mutations. ACDC is characterized by progressive and painful arterial calcifications primarily affecting the lower extremities, as well as calcifications affecting small joint capsules of the hands and feet. In this case report, the authors provide clinical follow-up for one of the first individuals identified by the National Institutes of Health (NIH) as having ACDC, focusing mainly on the imaging manifestations of periarticular joint mineralization, which are bilateral but slightly asymmetric, bulky up to the levels of the metacarpophalangeal and metatarsophalangeal joints, but smaller and more capsular in distribution at the proximal and distal interphalangeal joints, without erosive change or intra-articular mineralization. Differential considerations for similar appearing joint mineralization are provided.

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References

  1. St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, et al. NT5E mutations and arterial calcifications. N Engl J Med. 2011;364(5):432–42.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Li Q, Price TP, Sundberg JP, Uitto J. Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations. Cell Cycle. 2014;13(16):2609–15.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Hofmann Bowman MA, McNally EM. Genetic pathways of vascular calcification. Trends Cardiovasc Med. 2012;22(4):93–8.

    Article  CAS  PubMed  Google Scholar 

  4. Kullo IJ, Leeper NJ. The genetic basis of peripheral arterial disease: current knowledge, challenges, and future directions. Circ Res. 2015;116(9):1551–60.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Colgan SP, Eltzschig HK, Eckle T, Thompson LF. Physiological roles for ecto-5′-nucleotidase (CD73). Purinergic Signal. 2006;2(2):351–60.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, et al. Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab. 2011;103(1):44–50.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Khairi MR, Altman RD, DeRosa GP, Zimmermann J, Schenk RK, Johnston CC. Sodium etidronate in the treatment of Paget’s disease of bone. a study of long-term results. Ann Intern Med. 1977;87(6):656–63.

    Article  CAS  PubMed  Google Scholar 

  8. Bostrom K, Watson KE, Stanford WP, Demer LL. Atherosclerotic calcification: relation to developmental osteogenesis. Am J Cardiol. 1995;75(6):88B–91B.

    Article  CAS  PubMed  Google Scholar 

  9. Lanzer P, Boehm M, Sorribas V, Thiriet M, Janzen J, Zeller T, et al. Medial vascular calcification revisited: review and perspectives. Eur Heart J. 2014;35(23):1515–25.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Yang D, Zhang Y, Nguyen HG, Koupenova M, Chauhan AK, Makitalo M, et al. The A2B adenosine receptor protects against inflammation and excessive vascular adhesion. J Clin Invest. 2006;116(7):1913–23.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet. 2012;90(1):25–39.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Uitto J, Li Q, Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol. 2010;130(3):661–70.

    Article  CAS  PubMed  Google Scholar 

  13. Nitschke Y, Rutsch F. Genetics in arterial calcification: lessons learned from rare diseases. Trends Cardiovasc Med. 2012;22(6):145–9.

    Article  CAS  PubMed  Google Scholar 

  14. Stewart VL, Herling P, Dalinka MK. Calcification in soft tissues. JAMA. 1983;250(1):78–81.

    Article  CAS  PubMed  Google Scholar 

  15. Olsen KM, Chew FS. Tumoral calcinosis: pearls, polemics, and alternative possibilities. Radiographics. 2006;26(3):871–85.

    Article  PubMed  Google Scholar 

  16. El-Kishawi AM, El-Nahas AM. Renal osteodystrophy: review of the disease and its treatment. Saudi J Kidney Dis Transpl. 2006;17(3):373–82.

    PubMed  Google Scholar 

  17. Girish G, Melville DM, Kaeley GS, Brandon CJ, Goyal JR, Jacobson JA, et al. Imaging appearances in gout. Arthritis. 2013;2013:673401.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Roddy E, Choi HK. Epidemiology of gout. Rheum Dis Clin North Am. 2014;40(2):155–75.

  19. Golding DN, Walshe JM. Arthropathy of Wilson’s disease. study of clinical and radiological features in 32 patients. Ann Rheum Dis. 1977;36(2):99–111.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Habash-Bseiso DE, Yale SH, Glurich I, Goldberg JW. Serologic testing in connective tissue diseases. Clin Med Res. 2005;3(3):190–3.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Stoker DJ. Focal and regional mineralization in the soft tissues. Curr Orthop. 1999;13:199–211.

    Article  Google Scholar 

  22. Lehmer LM, Ragsdale BD. Calcific periarthritis: more than a shoulder problem: a series of fifteen cases. J Bone Joint Surg Am. 2012;94(e157).

  23. Gerber B, Guggenberger R, Fasler D, Nair G, Manz MG, Stussi G, et al. Reversible skeletal disease and high fluoride serum levels in hematologic patients receiving voriconazole. Blood. 2012;120(12):2390–4.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Ave., Room M391, Box 0628, San Francisco, CA, 94143, USA

    Luis Balmore Gutierrez, Thomas Link & Daria Motamedi

  2. Division of Rheumatology, University of California, San Francisco, 505 Parnassus Ave., Room M391, Box 0628, San Francisco, CA, 94143, USA

    Krishna Chaganti

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  1. Luis Balmore Gutierrez
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  2. Krishna Chaganti
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  3. Daria Motamedi
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Correspondence to Luis Balmore Gutierrez.

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Gutierrez, L.B., Link, T., Chaganti, K. et al. Arterial calcification due to CD73 deficiency (ACDC): imaging manifestations of ectopic mineralization. Skeletal Radiol 45, 1583–1587 (2016). https://doi.org/10.1007/s00256-016-2465-9

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  • DOI: https://doi.org/10.1007/s00256-016-2465-9

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