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Clinical features of dyskeratosis congenita in mainland China: case reports and literature review

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Abstract

Dyskeratosis congenita (DC) is a rare-inherited bone marrow failure syndrome associated with multi-system disorder. To summarize the clinical features, epidemiology, and treatment of DC in mainland China, we retrospectively reviewed the medical records of two patients diagnosed with DC at our hospital and published reports on other DC patients in mainland China. The clinical features of 82 DC patients were summarized. The median age of onset was 5 years, but the median age at diagnosis was 16 years. Bone marrow failure occurred at a high rate of 44% and early, with a median onset age of 6 years (range 1–40 years). Only DKC1, TINF2, and TERT mutations were reported, which is a relatively simple signature. Aplastic anemia was treated mainly with low-dose androgens, glucocorticoids, or allogeneic hematopoietic stem cell transplantation, with an efficacy of 39% (14/36). In China, DC is relatively common in infants, with early age of onset but delayed diagnosis. Bone marrow failure occurred at a high rate and early. Improvement in the knowledge and awareness of DC combined with gene mutation tests will facilitate diagnosis and therapy in its early stages.

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References

  1. Dokal I, Vulliamy T. Inherited bone marrow failure syndromes. J Hematop. 2011;4:53–60.

    Article  Google Scholar 

  2. Fuente JDL, Dokal I. Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplant. 2007;11:584–94.

    Article  PubMed  CAS  Google Scholar 

  3. De BK, Degreef H, Verwilghen R, Corbeel L, Casteels Van DM. Thrombocytopenia: first symptom in a patient with dyskeratosis congenita. Pediatrics. 1981;7:898–903.

    Google Scholar 

  4. Dokal I, Vulliamy T, Mason P, Bessler M. Clinical utility gene card for: dyskeratosis congenita. Eur J Hum Genet. 2011;19:1–11.

    Article  CAS  Google Scholar 

  5. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood. 2009;113:6549–57.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  6. Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009;145:164–72.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  7. Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol. 2010;92:419–24.

    Article  PubMed  Google Scholar 

  8. Killick SB, Bown N, Cavenagh J, Dokal I, Foukaneli T, Hill A, et al. Guidelines for the diagnosis and management of adult aplastic anaemia. Br J Haematol. 2016;172:187–207.

    Article  PubMed  Google Scholar 

  9. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010;24:101–22.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  10. Knight S, Vulliamy T, Copplestone A, Gluckman E, Mason P, Dokal I. Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haematol. 2015;103:990–6.

    Article  Google Scholar 

  11. Doka I. Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program. 2011; 2011:480–6.

    Article  Google Scholar 

  12. Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013;6(3):327–37.

    Article  PubMed  CAS  Google Scholar 

  13. Zhang JY, An WB, Zhang L, Chang LX, Qi BQ, Liu TF, et al. Genotype analysis and telomere length measure in patients with dyskeratosis congenita. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2015;23:212–6.

    PubMed  CAS  Google Scholar 

  14. Liu X, Li XY, Deng WP, Dong X, Zhang QLX, Hu ZZ. Telomere length in patients with dyskeratosis congenita in a Chinese Family. Int J Genet. 2012;35:157–60.

    Google Scholar 

  15. Zhou A, Xia XX, Chen Z, Li FZL, Liang XS. Bone marrow transplantation in the treatment of two cases of dyskeratosis congenita. Zhonghua Xue Ye Xue Za Zhi. 2001;22:407.

    Google Scholar 

  16. Appleyard J, Maden JG. Multidisciplinary teams. Br Med J. 1979;2:1305–7.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  17. Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, et al. Dyskeratosis congenita: the first NIH clinical research workshop. Pediatr Blood Cancer. 2009;53:520–3.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin N Am. 2009;23:215–31.

    Article  Google Scholar 

  19. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000;110:768–79.

    Article  PubMed  CAS  Google Scholar 

  20. Kumar S, Suthar R. Dyskeratosis Congenita. Br J Oral Surg. 2013;15:56–8.

    Google Scholar 

  21. Dean A, Alamillos FJ, Velez A, Velasco F, Rodas J, Garcia A. Squamous cell carcinoma of the oral cavity and Fanconi’s anemia. An association to bear in mind. Med Oral. 1999;4:410–5.

    PubMed  Google Scholar 

  22. Young NS, Scheinberg P, Calado RT. Aplastic anemia. Curr Opin hematol. 2008;15:162–8.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Buchbinder D, Nugent DJ, Fillipovich AH. Wiskott–Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet. 2014;7:55–66.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  24. Fernández García MS, Teruya-Feldstein J. The diagnosis and treatment of dyskeratosis congenita: a review. J Blood Med. 2014; 2014(default):157–67.

    Google Scholar 

  25. Elmahadi S, Muramatsu H, Kojima S. Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita. Curr Opin Hematol. 2016;23:501–7.

    Article  PubMed  CAS  Google Scholar 

  26. Khincha PP, Wentzensen IM, Giri N, Alter BP, Savage SA. Response to androgen therapy in patients with dyskeratosis congenita. Br J Haematol. 2014;165:349–57.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  27. Agarwal S. Evaluation and management of hematopoietic failure in dyskeratosis congenita. Hematol Oncol Clin N Am. 2018;32:669–85.

    Article  Google Scholar 

  28. Kirwan M, Beswick R, Yulliamy T, Nathwani AC, Walne AJ, Casimir C. Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients. Br J Haematol. 2009;144:771–81.

    Article  PubMed  CAS  Google Scholar 

  29. Kirwan M, Doka I. Dyskeratosis congenita, stem cell and telomeres. Biochim Biophys Acta. 2009;1792:371–9.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  30. Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere, biology disorders. Genet Med. 2010;12:753–64.

    Article  PubMed  Google Scholar 

  31. Mason PJ, Bessler M. The genetics of dyskeratosis congenita. Cancer Genet. 2011;204:635–45.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  32. Yamaguchi H, Sakaguchi H, Yoshida K, Yabe M, Yabe H, Okuno Y, et al. Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. Int J Hematol. 2015;102:544–52.

    Article  PubMed  Google Scholar 

  33. Xu J, Khincha PP, Giri N, Alter BP, Savage SA, Wong JM. Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations. Am J Hematol. 2016;91:1215–20.

    Article  PubMed  CAS  Google Scholar 

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Funding

This study was funded by Advanced Suitable Technology Popularization Project of Shanghai Health System (Grant number 2013SY073).

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Authors and Affiliations

  1. Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Xincun Road 389, Shanghai, 200065, People’s Republic of China

    Fuxing Li, Wei Li, Xiaohong Qiao & Xiaotian Xie

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  1. Fuxing Li
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  2. Wei Li
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  3. Xiaohong Qiao
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  4. Xiaotian Xie
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Correspondence to Fuxing Li or Xiaotian Xie.

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Li, F., Li, W., Qiao, X. et al. Clinical features of dyskeratosis congenita in mainland China: case reports and literature review. Int J Hematol 109, 328–335 (2019). https://doi.org/10.1007/s12185-018-02582-x

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  • DOI: https://doi.org/10.1007/s12185-018-02582-x

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