Pregnancy in women with glycogen storage disease Ia and Ib.
Over the past 9 decades since glycogen storage disease (GSD) was described, an almost universally fatal disease has become one where women are living well into adulthood and choosing to bear children. This inborn error of metabolism associated with the creation and utilization of glycogen, when untreated, manifests with unrelenting hypoglycemia. The initiation of continuous feeds has improved outcomes, and later in 1982, the administration of intermittent doses of cornstarch in water provided a continuous supply of exogenous glucose. As metabolic control has improved, morbidity has decreased. Glycogen storage disease Ib has the same severity of hypoglycemia as GSD Ia, with associated immune disturbance. Prior to the introduction of granulocyte colony-stimulating factor (G-CSF), infections caused significant mortality in GSD Ib. Pregnancy in patients with GSD Ia and Ib poses unique challenges during gestation and delivery. Good metabolic control before conception and throughout pregnancy is directly related to successful outcomes. There is no nursing literature to date addressing perinatal and neonatal care in this population.
University of Florida, Gainesville, Florida (Ms Ferrecchia); Bard College at Simon's Rock, Great Barrington, Massachusetts (Ms Guenette); UFHealth, Gainesville, Florida (Ms Potocik); and University of Florida College of Medicine, Gainesville (Dr Weinstein).
Iris A
IA
Ferrecchia
Ginny
G
Guenette
Elizabeth A
EA
Potocik
David A
DA
Weinstein
D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis* / Q000188:drug therapy; D052120:Glycogen Storage Disease Type IIb / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D007231:Infant, Newborn; D018743:Perinatal Care; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis* / Q000188:drug therapy; D011256:Pregnancy Outcome; D011264:Pregnancy Trimesters; D018566:Pregnancy, High-Risk; D011295:Prenatal Care / Q000379:methods; D018570:Risk Assessment