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Page 1
Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.
Johnson S, Grace RF, Despotovic JM. Johnson S, et al. Pediatr Blood Cancer. 2022 Aug;69(8):e29696. doi: 10.1002/pbc.29696. Epub 2022 Apr 22. Pediatr Blood Cancer. 2022. PMID: 35452178 Review.
The treatment of PK deficiency has made strides over the last few years with newer disease-modifying therapies being developed and studied, with the potential to change the course of disease in childhood and beyond....
The treatment of PK deficiency has made strides over the last few years with newer disease-modifying therapies being developed and studied, …
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.
Grace RF, Rose C, Layton DM, Galactéros F, Barcellini W, Morton DH, van Beers EJ, Yaish H, Ravindranath Y, Kuo KHM, Sheth S, Kwiatkowski JL, Barbier AJ, Bodie S, Silver B, Hua L, Kung C, Hawkins P, Jouvin MH, Bowden C, Glader B. Grace RF, et al. N Engl J Med. 2019 Sep 5;381(10):933-944. doi: 10.1056/NEJMoa1902678. N Engl J Med. 2019. PMID: 31483964 Clinical Trial.
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design.
Grace RF, van Beers EJ, Vives Corrons JL, Glader B, Glenthøj A, Kanno H, Kuo KHM, Lander C, Layton DM, Pospíŝilová D, Viprakasit V, Li J, Yan Y, Boscoe AN, Bowden C, Bianchi P. Grace RF, et al. BMJ Open. 2023 Mar 23;13(3):e063605. doi: 10.1136/bmjopen-2022-063605. BMJ Open. 2023. PMID: 36958777 Free PMC article.
Due to its rarity and clinical heterogeneity, information on the natural history and long-term clinical course of PK deficiency is limited, presenting major challenges to patient management, the development of new therapies and establishing disease-specific treatment recom …
Due to its rarity and clinical heterogeneity, information on the natural history and long-term clinical course of PK deficiency is li …
Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.
Mehrabi Sisakht J, Mehri M, Najmabadi H, Azarkeivan A, Neishabury M. Mehrabi Sisakht J, et al. Arch Iran Med. 2022 Oct 1;25(10):691-697. doi: 10.34172/aim.2022.108. Arch Iran Med. 2022. PMID: 37542401 Free PMC article.
RESULTS: We identified five variants in the PKLR gene, including a novel unpublished frameshift in these families. These variants were predicted as pathogenic according to the ACMG guidelines by Intervar and/or Varsome prediction tools. ...
RESULTS: We identified five variants in the PKLR gene, including a novel unpublished frameshift in these families. These variants were pr …
The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.
Al-Samkari H, Addonizio K, Glader B, Morton DH, Chonat S, Thompson AA, Kuo KHM, Ravindranath Y, Wang H, Rothman JA, Kwiatkowski JL, Kung C, Kosinski PA, Al-Sayegh H, London WB, Grace RF. Al-Samkari H, et al. Br J Haematol. 2021 Mar;192(6):1092-1096. doi: 10.1111/bjh.16724. Epub 2020 May 28. Br J Haematol. 2021. PMID: 32463523 Free article. Clinical Trial.
Given that the number of PKLR variants and genotype combinations limits prognostication based on molecular findings, PK-R protein level may be a useful prognostic biomarker of disease severity and merits further study....
Given that the number of PKLR variants and genotype combinations limits prognostication based on molecular findings, PK-R protein lev …
Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report.
Maisonneuve E, Sohier Lepine M, Maurice P, Pissard S, Lafon B, Mailloux A, Dhombres F, Leverger G, Jouannic JM. Maisonneuve E, et al. Transfusion. 2023 Jan;63(1):257-262. doi: 10.1111/trf.17177. Epub 2022 Nov 8. Transfusion. 2023. PMID: 36349479
A hematopoietic stem cell allograft was discussed prenatally but not chosen, as it would not have significantly changed the perinatal prognosis. The patient delivered a 2730 g girl at 37 weeks, with hemoglobin of 13.6 g/dl. ...
A hematopoietic stem cell allograft was discussed prenatally but not chosen, as it would not have significantly changed the perinatal pro …
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Grace RF, et al. Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16. Blood. 2018. PMID: 29549173 Free article.
Splenectomy (150 [59%] of 254 patients) was associated with a median increase in hemoglobin of 1.6 g/dL and a decreased transfusion burden in 90% of patients. Predictors of a response to splenectomy included higher presplenectomy hemoglobin (P = .007), lower indirect bilir …
Splenectomy (150 [59%] of 254 patients) was associated with a median increase in hemoglobin of 1.6 g/dL and a decreased transfusion burden i …
Lemierre Syndrome in a Patient With Splenectomy Secondary to Pyruvate Kinase Deficiency, Complicated by Heparin Resistance.
Clark K, Sly M, Chan P, Lai H, Ali H, Contreras D, Sidhu R, Bhandohal J, Mishra S, Kuran R, Polineni RD. Clark K, et al. J Investig Med High Impact Case Rep. 2021 Jan-Dec;9:23247096211040635. doi: 10.1177/23247096211040635. J Investig Med High Impact Case Rep. 2021. PMID: 34420414 Free PMC article.
He was started on empiric intravenous vancomycin, zosyn, and heparin, but subsequently demonstrated heparin resistance, and was thus anticoagulated with a lovenox bridge to warfarin. Throughout his hospital course, hemocultures demonstrated no growth, so antibiotic treatme …
He was started on empiric intravenous vancomycin, zosyn, and heparin, but subsequently demonstrated heparin resistance, and was thus anticoa …
Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency.
van Straaten S, Bierings M, Bianchi P, Akiyoshi K, Kanno H, Serra IB, Chen J, Huang X, van Beers E, Ekwattanakit S, Güngör T, Kors WA, Smiers F, Raymakers R, Yanez L, Sevilla J, van Solinge W, Segovia JC, van Wijk R. van Straaten S, et al. Haematologica. 2018 Feb;103(2):e82-e86. doi: 10.3324/haematol.2017.177857. Epub 2017 Dec 14. Haematologica. 2018. PMID: 29242305 Free PMC article. No abstract available.
A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.
Li H, Gu P, Yao RE, Wang J, Fu Q, Wang J. Li H, et al. Fetal Pediatr Pathol. 2014 Jun;33(3):182-90. doi: 10.3109/15513815.2014.890260. Epub 2014 Mar 6. Fetal Pediatr Pathol. 2014. PMID: 24601847
Both mutations led to significant structural alterations and decreased enzymatic activity of PK, as predicted by tool software. CONCLUSIONS: The compound heterozygous mutations in the PKLR gene were the cause of inherited PKD for this patient....
Both mutations led to significant structural alterations and decreased enzymatic activity of PK, as predicted by tool software. CONCL …
11 results