What question did this study set out to answer?

To evaluate disease monitoring and management practices in pediatric patients with pyruvate kinase deficiency compared to 2024 guidelines.

December 8, 2025Blood

Disease monitoring and management among pediatric patients with pyruvate kinase deficiency: Real-world practices from pyruvate kinase deficiency registries prior to 2024 international expert guidelines

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Authors

AGAndreas GlenthoejUniversity of Copenhagen BGBertil GladerStanford Medicine YYYan YanAgios Pharmaceuticals (United States)

Discussion

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Implication

Retrospective analysis found gaps in disease monitoring for pediatric patients with pyruvate kinase deficiency, indicating need for improved practices.

Key Points

To evaluate disease monitoring and management practices in pediatric patients with pyruvate kinase deficiency compared to 2024 guidelines.
Retrospective analysis of data from the PK Deficiency Natural History Study and Peak Registry.
Involved pediatric patients aged 1-17 years with documented visits from 2014 to 2023.
Data was summarized descriptively, focusing on transfusion status and clinical monitoring activities.
140 pediatric patients were included, with NRT (107) and RT (33) groups.
Significant iron overload was observed, particularly among RT patients who received more than 10 transfusions on average.
Gaps identified in monitoring practices for iron overload, bone health, and endocrine function compared to guideline recommendations.

Cite This Study

Glenthoej et al. (2025) studied this question.

synapsesocial.com/papers/69362f714fa91c937236e215 https://doi.org/10.1182/blood-2025-4454

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Implication

Retrospective analysis found gaps in disease monitoring for pediatric patients with pyruvate kinase deficiency, indicating need for improved practices.

Disease monitoring and management among pediatric patients with pyruvate kinase deficiency: Real-world practices from pyruvate kinase deficiency registries prior to 2024 international expert guidelines

Discussion

Member takes

Implication

Key Points

Cite This Study

Disease monitoring and management among pediatric patients with pyruvate kinase deficiency: Real-world practices from pyruvate kinase deficiency registries prior to 2024 international expert guidelines

Discussion

Member takes

Implication

Key Points

Cite This Study

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