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Pyruvate kinase deficiency complicating pregnancy
Joseph R Wax1, Michael G Pinette, Angelina Cartin
1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, Maine 04102, USA. waxj@mmc.org
Obstetrics and Gynecology
|February 3, 2007
Summary
Pyruvate kinase deficiency, a cause of hemolytic anemia, presents varied maternal challenges during pregnancy. However, both patients and their infants experienced favorable outcomes, highlighting the condition's manageable nature.
Area of Science:
- Hematology
- Obstetrics
- Genetics
Background:
- Pyruvate kinase deficiency (PKD) is the second most frequent cause of hereditary nonspherocytic hemolytic anemia.
- Pregnancies in patients with PKD are rare, with only four cases reported since 1980.
Observation:
- A 22-year-old patient without splenectomy presented with severe hemolytic anemia (hematocrit 19.0%), requiring transfusions and developing preeclampsia.
- Another patient with a prior splenectomy experienced chronic hemolysis (hematocrit 26.4-31.6%) without transfusion needs.
- Both patients delivered at term, one via cesarean due to nonreassuring fetal heart rate, the other vaginally after induction for fetal growth restriction.
Findings:
- Despite differing maternal complications such as preeclampsia, nonreassuring fetal heart rate, and fetal growth restriction, both pregnancies resulted in positive maternal-fetal outcomes.
- This case series suggests that pyruvate kinase deficiency, while presenting risks, is compatible with successful pregnancy management.
Implications:
- Pyruvate kinase deficiency management during pregnancy requires careful monitoring for maternal and fetal well-being.
- Understanding the spectrum of PKD presentation in pregnancy can guide clinical decision-making and improve patient counseling.
- Further research into the long-term outcomes of infants born to mothers with PKD is warranted.
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