Abstract
Takenouchi-Kosaki syndrome (TKS) is a rare congenital disease caused by a de novo heterozygous mutation in the CDC42 gene. Its characteristic clinical features are macrothrombocytopenia, developmental delay, dysmorphic facial features, and deafness. Splenectomy has been contraindicated for inherited thrombocytopenia, and there is little information on treatment of macrothrombocytopenia in TKS. In a previously reported case of autoimmune hemolytic anemia (AIHA) with TKS, we observed that AIHA initially resolved with prednisolone, but gradually became refractory to drug therapy. After splenectomy, both anemia and macrothrombocytopenia improved. This is a novel positive effect of splenectomy for thrombocytopenia in TKS, although further studies are required to assess the effectiveness and safety of splenectomy.
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The data of the findings of this study are available on request from the corresponding authors. The data are not publicly available since the information could compromise the privacy of research participants.
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Acknowledgements
The authors would like to thank the medical editor from the Division of Postgraduate Education and Training at the NCCHD for editing a draft of this manuscript.
Funding
This study was supported by grants from the Japan Agency for Medical Research and Development (18ek0109366h0001, 19ek0109366h0002, and 20ek0109366h003), and a grant from NCCHD (2021-B3) to A. Ishiguro.
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AI (both Iguchi and Ishiguro), TU, and SK contributed to the conception and supervised the study; TK and KY performed genetic analysis; SY and KI drafted the manuscript and figures with contributions from both AIs and AS. All authors reviewed and approved the final manuscript.
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This study was approved by the Ethics Committees of the NCCHD in May 2018 (#1818). Informed consent for this report was obtained from the patient and her parents.
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Yamano, S., Iguchi, A., Ishikawa, K. et al. Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome. Int J Hematol 117, 622–625 (2023). https://doi.org/10.1007/s12185-022-03491-w
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DOI: https://doi.org/10.1007/s12185-022-03491-w