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06:09
Assaying the Kinase Activity of LRRK2 in vitro
Published on: January 18, 2012
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Pyruvate kinase deficiency in children.
Satheesh Chonat1, Stefan W Eber2, Susanne Holzhauer3
1Department of Pediatrics, Emory University School of Medicine, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
Pediatric Blood & Cancer
|June 14, 2021
Summary
Pyruvate kinase deficiency (PKD) in children presents a high disease burden with varied management. Early diagnosis and monitoring are crucial to prevent severe childhood complications.
Area of Science:
- Hematology
- Pediatric Medicine
- Rare Diseases
Background:
- Pyruvate kinase deficiency (PKD) is an inherited red blood cell disorder causing chronic hemolytic anemia.
- This condition leads to significant lifelong health complications for affected individuals.
Purpose of the Study:
- To analyze the clinical characteristics and management of pediatric patients with molecularly confirmed Pyruvate kinase deficiency (PKD).
- To identify disease burden, treatment variations, and complication rates in children with PKD.
Main Methods:
- An international, multicenter registry collected retrospective and prospective data from 124 children under 18 with confirmed PKD.
- Data included age at diagnosis, clinical presentation, transfusion history, splenectomy, and complications.
Main Results:
- Diagnosis age varied widely (0-16 years), with diverse newborn presentations.
- Children under 5 were more likely to require transfusions than older children.
- High complication rates observed, including iron overload (48%), perinatal issues (31%), and gallstones (20%).
- Splenectomy improved hemoglobin but carried risks of infection and thrombosis.
Conclusions:
- Children with PKD face a substantial disease burden and inconsistent clinical practices.
- Recognizing the full spectrum of PKD manifestations is vital for timely diagnosis, monitoring, and management to mitigate childhood complications.
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