Trasplante de progenitores hematopoyéticos en déficit de piruvato cinasa: ¿cuándo indicarlo?

Pérez-Albert, Paula; Guillén, María; Prudencio, Marta; González-Vicent, Marta; Sevilla, Julián

doi:10.1016/j.anpedi.2017.02.016

Cited by 2 publications

(1 citation statement)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There is currently no curative therapy for PKD, and the condition is clinically managed by maintaining adequate hemoglobin levels through transfusion and using splenectomy for patients with severe anemia or symptomatic hypersplenism [ 1 , 5 – 7 ], both resulting in a marked increase of patient morbidity and mortality. Although hematopoietic stem cell transplantation may offer a cure for PKD, this has yet to demonstrate favorable benefit-risk balance, and is currently not standard practice [ 8 ]. Iron overload, in part due to chronic blood transfusions, often necessitates treatment with iron chelation therapy, which has been reported to result in various complications in nearly a quarter of patients receiving chelation [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency

Salek

Ionova²,

Johns³

et al. 2018

Qual Life Res

View full text Add to dashboard Cite

Purpose Pyruvate kinase deficiency (PKD) is a rare disease and understanding of its epidemiology and associated burden remains limited. With no current curative therapy, clinical manifestations can be life threatening, clinically managed by maintaining adequate hemoglobin levels through transfusion and subsequent support, but with frequent complications. Treatment goals are to maintain/improve the patient’s quality of life. With new therapies, reliable, valid, and relevant patient-reported outcome (PRO) tools are required for use in clinical trials. Methods Systematic literature search identified no current PRO tools for capturing/measuring the impact of PKD and treatments in clinical trials. Therefore, the search strategy was revised to consider conditions analogous to PKD in terms of symptoms and impacts that might serve as parallels to the experience in PKD; this included sickle cell anemia, thalassemia, and hemolytic anemia. Psychometric properties, strengths, and weakness of selected appropriate PRO instruments were compared, and recommendations made for choice of PRO tools. Results In adult populations, EORTC QLQ C30 and SF-36v2 are recommended, the former being a basic minimum, covering generic HRQoL, and core symptoms such as fatigue. In pediatric populations, PedsQL Generic Core Scale to measure HRQoL and PedsQL MFS scale to measure fatigue are recommended. Conclusions Some symptoms/life impacts may be unique to PKD and not observable in analogous conditions. A ‘Physico-Psychosocial Model’ derived from the ‘Medical Model’ is proposed to form the basis for a hypothesized conceptual framework to address the development of PKD-specific PRO instruments. Electronic supplementary material The online version of this article (10.1007/s11136-018-2025-y) contains supplementary material, which is available to authorized users.

show abstract

Section: Introductionmentioning

confidence: 99%

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency

Salek

Ionova²,

Johns³

et al. 2018

Qual Life Res

View full text Add to dashboard Cite

show abstract

Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report

Ma¹,

Yang²

2021

WJCC

View full text Add to dashboard Cite

BACKGROUND The understanding regarding genetic variation, pathophysiology, and complications associated with pyruvate kinase deficiency (PKD) in red blood cells has been explained largely, and supportive treatment is currently the main management strategy. Etiotropic managements, including transplantation and genome editing, supplying for substitute dugs of the pyruvate kinase, are all under research. CASE SUMMARY We herein report a 3-year-old boy with severe transfusion-dependent PKD cured by unrelated identical peripheral blood stem cell transplantation (PBSCT). Hemoglobin was corrected to a normal level by gene correction after PBSCT, with no complication related to the transplantation. CONCLUSION Hematopoietic stem cell transplantation could be a substitute for transfusion-dependent PKD.

show abstract

Trasplante de progenitores hematopoyéticos en déficit de piruvato cinasa: ¿cuándo indicarlo?

Cited by 2 publications

References 6 publications

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency

Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report

Contact Info

Product

Resources

About