Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review

医学 骨髓纤维化 耐火材料(行星科学) 突变 儿科 内科学 遗传学 骨髓 冶金 生物 基因 材料科学
作者
G. Y. Wong,Zita G. K. Hung,Karin K. H. Ho,Shuo‐Chien Ling,Jasmine L.F. Fung,Mianne Lee,Jeffrey Fong Ting Chau,S. Y. Ha,Brian Hon‐Yin Chung
出处
期刊:Pediatric Blood & Cancer [Wiley]
卷期号:70 (4) 被引量:1
标识
DOI:10.1002/pbc.30157
摘要

Pediatric Blood & CancerVolume 70, Issue 4 e30157 LETTER TO THE EDITOR Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review G. Y. Wong, Corresponding Author G. Y. Wong [email protected] orcid.org/0000-0003-3955-5129 Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon City, Hong Kong Correspondence G. Y. Wong, Hong Kong Children's Hospital, 1 Shing Cheong Road, Kowloon Bay, Hong Kong. Email: [email protected]Search for more papers by this authorZita G. K. Hung, Zita G. K. Hung Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon City, Hong KongSearch for more papers by this authorKarin K. H. Ho, Karin K. H. Ho Department of Pediatrics and Adolescent Medicine, Princess Margaret Hospital, Lai Chi Kok, Hong KongSearch for more papers by this authorS. C. Ling, S. C. Ling Department of Pediatrics and Adolescent Medicine, Princess Margaret Hospital, Lai Chi Kok, Hong KongSearch for more papers by this authorJasmine L. F. Fung, Jasmine L. F. Fung Department of Pediatrics and Adolescent Medicine, University of Hong Kong, Hong KongSearch for more papers by this authorMianne Lee, Mianne Lee Department of Pediatrics and Adolescent Medicine, University of Hong Kong, Hong KongSearch for more papers by this authorJeffrey F. T. Chau, Jeffrey F. T. Chau Department of Pediatrics and Adolescent Medicine, University of Hong Kong, Hong KongSearch for more papers by this authorS. Y. Ha, S. Y. Ha Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon City, Hong KongSearch for more papers by this authorBrian H. Y. Chung, Brian H. Y. Chung Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon City, Hong Kong Department of Pediatrics and Adolescent Medicine, University of Hong Kong, Hong KongSearch for more papers by this author G. Y. Wong, Corresponding Author G. Y. Wong [email protected] orcid.org/0000-0003-3955-5129 Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon City, Hong Kong Correspondence G. Y. Wong, Hong Kong Children's Hospital, 1 Shing Cheong Road, Kowloon Bay, Hong Kong. Email: [email protected]Search for more papers by this authorZita G. K. Hung, Zita G. K. Hung Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon City, Hong KongSearch for more papers by this authorKarin K. H. Ho, Karin K. H. Ho Department of Pediatrics and Adolescent Medicine, Princess Margaret Hospital, Lai Chi Kok, Hong KongSearch for more papers by this authorS. C. Ling, S. C. Ling Department of Pediatrics and Adolescent Medicine, Princess Margaret Hospital, Lai Chi Kok, Hong KongSearch for more papers by this authorJasmine L. F. Fung, Jasmine L. F. Fung Department of Pediatrics and Adolescent Medicine, University of Hong Kong, Hong KongSearch for more papers by this authorMianne Lee, Mianne Lee Department of Pediatrics and Adolescent Medicine, University of Hong Kong, Hong KongSearch for more papers by this authorJeffrey F. T. Chau, Jeffrey F. T. Chau Department of Pediatrics and Adolescent Medicine, University of Hong Kong, Hong KongSearch for more papers by this authorS. Y. Ha, S. Y. Ha Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon City, Hong KongSearch for more papers by this authorBrian H. Y. Chung, Brian H. Y. Chung Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon City, Hong Kong Department of Pediatrics and Adolescent Medicine, University of Hong Kong, Hong KongSearch for more papers by this author First published: 22 December 2022 https://doi.org/10.1002/pbc.30157Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 1Gault CR, Obeid LM, Hannun YA. An overview of sphingolipid metabolism: from synthesis to breakdown. Adv Exp Med Biol. 2010; 688: 1-23. 10.1007/978-1-4419-6741-1_1 CASPubMedWeb of Science®Google Scholar 2Dunn TM, Tifft CJ, Proia RL. A perilous path: the inborn errors of sphingolipid metabolism. J Lipid Res. 2019; 60(3): 475-483. 10.1194/jlr.S091827 CASPubMedWeb of Science®Google Scholar 3Tan-Chen S, Guitton J, Bourron O, Le Stunff H, Hajduch E. Sphingolipid metabolism and signaling in skeletal muscle: from physiology to physiopathology. Front Endocrinol. 2020; 11: 491. 10.3389/fendo.2020.00491 PubMedWeb of Science®Google Scholar 4Park KH, Ye ZW, Zhang J, et al. 3-ketodihydrosphingosine reductase mutation induces steatosis and hepatic injury in zebrafish. Sci Rep. 2019; 9(1): 1138. 10.1038/s41598-018-37946-0 PubMedWeb of Science®Google Scholar 5Boyden LM, Vincent NG, Zhou J, et al. Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma. Am J Hum Genet. 2017; 100(6): 978-984. 10.1016/j.ajhg.2017.05.003 CASPubMedWeb of Science®Google Scholar 6Takeichi T, Torrelo A, Lee JYW, et al. Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia. J Invest Dermatol. 2017; 137(11): 2344-2353. 10.1016/j.jid.2017.06.028 CASPubMedWeb of Science®Google Scholar 7Huber M, Chiticariu E, Bachmann D, Flatz L, Hohl D. Palmoplantar keratoderma with leukokeratosis anogenitalis caused by KDSR mutations. J Invest Dermatol. 2020; 140(8): 1662-1665.e1. e1. 10.1016/j.jid.2019.11.029 CASPubMedWeb of Science®Google Scholar 8Kalén A, Borchardt RA, Bell RM. Elevated ceramide levels in GH4C1 cells treated with retinoic acid. Biochim Biophys Acta Lipid Lipid Met. 1992; 1125(1): 90-96. 10.1016/0005-2760(92)90160-W CASPubMedWeb of Science®Google Scholar 9Tani M, Sano T, Makoto Ito, Igarashi Y. Mechanisms of sphingosine and sphingosine 1-phosphate generation in human platelets. J Lipid Res. 2005; 46(11): 2458-2467. 10.1194/jlr.M500268-JLR200 CASPubMedWeb of Science®Google Scholar 10Błachnio-Zabielska A, Baranowski M, Wójcik B, Górski J. Reduction of ceramide de novo synthesis in solid tissues changes sphingolipid levels in rat plasma, erythrocytes and platelets. Adv Med Sci. 2016; 61(1): 72-77. 10.1016/j.advms.2015.09.006 PubMedWeb of Science®Google Scholar 11Zhang L, Orban M, Lorenz M, et al. A novel role of sphingosine 1-phosphate receptor S1pr1 in mouse thrombopoiesis. J Exp Med. 2012; 209(12): 2165-2181. 10.1084/jem.20121090 CASPubMedWeb of Science®Google Scholar 12Liu C, Chen XY, Wu WQ, Zhu XF. A homozygotic mutation in KDSR may cause keratinization disorders and thrombocytopenia: a case report. Chin Med Sci J. 2020; 35(3): 278-282. 10.24920/003656 PubMedGoogle Scholar 13Bariana TK, Labarque V, Heremans J, et al. Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. Haematologica. 2019; 104(5): 1036-1045. 10.3324/haematol.2018.204784 CASPubMedWeb of Science®Google Scholar 14Holme H, Nanduri V. Paediatric presentation of familial cerebral cavernoma. Pediatr Blood Cancer. 2010; 54(3): 468-469. 10.1002/pbc.22288 CASPubMedWeb of Science®Google Scholar 15Dao I, Akhaddar A, El-Mostarchid B, Boucetta M. Giant cerebral cavernoma: case report with literature review. Neurosciences (Riyadh). 2012; 17: 69-73. PubMedGoogle Scholar 16Bao JX, Su YT, Cheng YP, Zhang HJ, Xie XP, Chang YM. Vascular sphingolipids in physiological and pathological adaptation. Front Biosci Landmark Ed. 2016; 21: 1168-1186. 10.2741/4448 CASPubMedWeb of Science®Google Scholar Volume70, Issue4April 2023e30157 ReferencesRelatedInformation
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