Pyruvate kinase deficiency in children
- Chonat, Satheesh
- Eber, Stefan W.
- Holzhauer, Susanne
- Kollmar, Nina
- Morton, D. Holmes
- Glader, Bertil
- Neufeld, Ellis J.
- Yaish, Hassan M.
- Rothman, Jennifer A.
- Sharma, Mukta
- Ravindranath, Yaddanapudi
- Wang, Heng
- Breakey, Vicky R.
- Sheth, Sujit
- Bradeen, Heather A.
- Al‐sayegh, Hasan
- London, Wendy B.
- Grace, Rachael F.
DOIAbstract
BackgroundPyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and associated complications from the disease and its management.MethodsAn international, multicenter registry enrolled 124 individuals younger than 18 years old with molecularly confirmed PKD from 29 centers. Retrospective and prospective clinical data were collected.ResultsThere was a wide range in the age at diagnosis from 0 to 16 years. Presentation in the newborn period ranged from asymptomatic to neonatal jaundice to fulminant presentations of fetal distress, myocardial depression, and/or liver failure. Children 12 to <18 years (53% vs. 14%, p = .0006), which correlated with the timing...
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