Academic Journal
Clinical analysis of six patients with pyruvate kinase deficiency caused by PKLR variants.
| Title: | Clinical analysis of six patients with pyruvate kinase deficiency caused by PKLR variants. |
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| Authors: | Wen, WANG, Yan-Xia, ZHAO, Ling-Zhen, WANG, Fan, JIANG, Jing, YANG, Li-Rong, SUN, Hui-Juan, XU |
| Source: | Chinese Journal of Contemporary Pediatrics; May2026, Vol. 28 Issue 5, p18-28, 11p |
| Subject Terms: | Genetic testing, Splenectomy, Therapeutics, Anemia, Genetic variation, Pyruvate kinase, Symptoms, Prognosis |
| Abstract: | Objective To investigate the clinical features, treatment, and prognosis of pyruvate kinase deficiency (PKD) caused by PKLR gene variants. Methods Clinical data of six patients with PKD who received care at the Affiliated Hospital of Qingdao University from August 2014 to August 2025 were retrospectively analyzed. Results Of the six patients, five were children with onset in infancy, and one was an adult whose disease onset occurred at school age. All presented with jaundice and anemia, and PKD was confirmed by genetic testing. Two patients underwent splenectomy due to frequent transfusion. Three patients were mild, required no regular transfusion, and did not undergo splenectomy. One patient died. Conclusions PKD manifests chronic hemolysis with variable clinical severity. Genetic testing is recommended for diagnosis. Curative therapy remains lacking; management is mainly supportive. Splenectomy may reduce transfusion dependence and improve quality of life. [ABSTRACT FROM AUTHOR] |
| Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Complementary Index |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical analysis of six patients with pyruvate kinase deficiency caused by PKLR variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Wen%2C+WANG%22">Wen, WANG</searchLink><br /><searchLink fieldCode="AR" term="%22Yan-Xia%2C+ZHAO%22">Yan-Xia, ZHAO</searchLink><br /><searchLink fieldCode="AR" term="%22Ling-Zhen%2C+WANG%22">Ling-Zhen, WANG</searchLink><br /><searchLink fieldCode="AR" term="%22Fan%2C+JIANG%22">Fan, JIANG</searchLink><br /><searchLink fieldCode="AR" term="%22Jing%2C+YANG%22">Jing, YANG</searchLink><br /><searchLink fieldCode="AR" term="%22Li-Rong%2C+SUN%22">Li-Rong, SUN</searchLink><br /><searchLink fieldCode="AR" term="%22Hui-Juan%2C+XU%22">Hui-Juan, XU</searchLink> – Name: TitleSource Label: Source Group: Src Data: Chinese Journal of Contemporary Pediatrics; May2026, Vol. 28 Issue 5, p18-28, 11p – Name: Subject Label: Subject Terms Group: Su Data: <searchLink fieldCode="DE" term="%22Genetic+testing%22">Genetic testing</searchLink><br /><searchLink fieldCode="DE" term="%22Splenectomy%22">Splenectomy</searchLink><br /><searchLink fieldCode="DE" term="%22Therapeutics%22">Therapeutics</searchLink><br /><searchLink fieldCode="DE" term="%22Anemia%22">Anemia</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+variation%22">Genetic variation</searchLink><br /><searchLink fieldCode="DE" term="%22Pyruvate+kinase%22">Pyruvate kinase</searchLink><br /><searchLink fieldCode="DE" term="%22Symptoms%22">Symptoms</searchLink><br /><searchLink fieldCode="DE" term="%22Prognosis%22">Prognosis</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Objective To investigate the clinical features, treatment, and prognosis of pyruvate kinase deficiency (PKD) caused by PKLR gene variants. Methods Clinical data of six patients with PKD who received care at the Affiliated Hospital of Qingdao University from August 2014 to August 2025 were retrospectively analyzed. Results Of the six patients, five were children with onset in infancy, and one was an adult whose disease onset occurred at school age. All presented with jaundice and anemia, and PKD was confirmed by genetic testing. Two patients underwent splenectomy due to frequent transfusion. Three patients were mild, required no regular transfusion, and did not undergo splenectomy. One patient died. Conclusions PKD manifests chronic hemolysis with variable clinical severity. Genetic testing is recommended for diagnosis. Curative therapy remains lacking; management is mainly supportive. Splenectomy may reduce transfusion dependence and improve quality of life. [ABSTRACT FROM AUTHOR] – Name: Abstract Label: Group: Ab Data: <i>Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.7499/j.issn.1008-8830.2509155 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 11 StartPage: 18 Subjects: – SubjectFull: Genetic testing Type: general – SubjectFull: Splenectomy Type: general – SubjectFull: Therapeutics Type: general – SubjectFull: Anemia Type: general – SubjectFull: Genetic variation Type: general – SubjectFull: Pyruvate kinase Type: general – SubjectFull: Symptoms Type: general – SubjectFull: Prognosis Type: general Titles: – TitleFull: Clinical analysis of six patients with pyruvate kinase deficiency caused by PKLR variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Wen, WANG – PersonEntity: Name: NameFull: Yan-Xia, ZHAO – PersonEntity: Name: NameFull: Ling-Zhen, WANG – PersonEntity: Name: NameFull: Fan, JIANG – PersonEntity: Name: NameFull: Jing, YANG – PersonEntity: Name: NameFull: Li-Rong, SUN – PersonEntity: Name: NameFull: Hui-Juan, XU IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: May2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 10088830 Numbering: – Type: volume Value: 28 – Type: issue Value: 5 Titles: – TitleFull: Chinese Journal of Contemporary Pediatrics Type: main |
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