{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T15:40:10Z","timestamp":1787586010812,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T00:00:00Z","timestamp":1626134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder caused by a <jats:italic>PK<\/jats:italic>\u2010<jats:italic>LR<\/jats:italic> gene mutation. Allogeneic hematopoietic cell transplantation (HCT) is an effective cure for PKD. However, the experience of applying HCT in PKD is limited.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present a child with novel <jats:italic>PK<\/jats:italic>\u2010<jats:italic>LR<\/jats:italic> gene mutations who was successfully cured by matched unrelated donor peripheral blood stem cell transplantation (MUD\u2010PBSCT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 4\u2010year\u2010old, male patient suffered severe hemolytic anemia and jaundice 5\u00a0h after birth. Gene sequencing showed that the pyruvate kinase\u2010liver and RBC (PK\u2010LR) gene had a nonsense mutation in exon 5: c.602G&gt;A (p.W201X), and large deletions in exons 3\u20139. Both of them were novel pathogenic mutations of the <jats:italic>PK<\/jats:italic>\u2010<jats:italic>LR<\/jats:italic> gene. After transplantation, the hemoglobin level became normal and the nonsense mutation was undetectable. Grade \u2163 acute graft\u2010versus\u2010host disease (aGVHD) and extensive chronic graft\u2010versus\u2010host disease (cGVHD) occurred in the patient. However, the GVHD was controlled effectively. The patient is alive and has good quality of life 22\u00a0months post\u2010transplant, but has mild oral lichen planus\u2010like lesion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Gene sequencing contributes to the diagnosis of PKD. HCT is an effective method for curing PKD, but we should explore how to reduce severe GVHD.<\/jats:p><\/jats:sec>","DOI":"10.1111\/petr.14078","type":"journal-article","created":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T14:11:29Z","timestamp":1626185489000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A pyruvate kinase deficiency child with novel <i>PK\u2010LR<\/i> gene mutations was successfully cured by matched unrelated donor peripheral blood stem cell transplantation"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2231-5172","authenticated-orcid":false,"given":"Li\u2010ping","family":"Zhan","sequence":"first","affiliation":[{"name":"Department of Pediatrics Sun Yat\u2010sen Memorial Hospital SunYat\u2010sen University Guangzhou China"},{"name":"Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li\u2010ping","family":"Que","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sun Yat\u2010sen Memorial Hospital SunYat\u2010sen University Guangzhou China"},{"name":"Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng\u2010zhou","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sun Yat\u2010sen Memorial Hospital SunYat\u2010sen University Guangzhou China"},{"name":"Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian\u2010dian","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sun Yat\u2010sen Memorial Hospital SunYat\u2010sen University Guangzhou China"},{"name":"Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai\u2010mei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sun Yat\u2010sen Memorial Hospital SunYat\u2010sen University Guangzhou China"},{"name":"Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong\u2010gui","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sun Yat\u2010sen Memorial Hospital SunYat\u2010sen University Guangzhou China"},{"name":"Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian\u2010pei","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sun Yat\u2010sen Memorial Hospital SunYat\u2010sen University Guangzhou China"},{"name":"Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sun Yat\u2010sen Memorial Hospital SunYat\u2010sen University Guangzhou China"},{"name":"Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12889"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2016.218"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1702576"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15758"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2015.12.009"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2007.01.001"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.161166"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.177857"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpdd.604"}],"container-title":["Pediatric 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