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Pyruvate kinase deficiency in children
Author(s) -
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.,
AlSayegh Hasan,
London Wendy B.,
Grace Rachael F.
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.29148
Subject(s) - medicine , splenectomy , pediatrics , asymptomatic , pyruvate kinase deficiency , jaundice , sepsis , pyruvate kinase , spleen , glycolysis , metabolism
Background Pyruvate 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. Methods An 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. Results There 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 <5 years old were significantly more likely to be transfused than children >12 to <18 years (53% vs. 14%, p = .0006), which correlated with the timing of splenectomy. Regular transfusions were most common in children with two severe PKLR variants. In regularly transfused children, the nadir hemoglobin goal varied considerably. Impact on quality of life was a common reason for treatment with regular blood transfusions and splenectomy. Splenectomy increased the hemoglobin and decreased transfusion burden in most children but was associated with infection or sepsis (12%) and thrombosis (1.3%) even during childhood. Complication rates were high, including iron overload (48%), perinatal complications (31%), and gallstones (20%). Conclusions There is a high burden of disease in children with PKD, with wide practice variation in monitoring and treatment. Clinicians must recognize the spectrum of the manifestations of PKD for early diagnostic testing, close monitoring, and management to avoid serious complications in childhood.