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Related Experiment Videos

Fabry disease complicating pregnancy.

Emily Parent1, Joseph R Wax, Wendy Smith

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME 04102, USA.

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|February 4, 2010
PubMed
Summary
This summary is machine-generated.

Fabry disease, an X-linked disorder, can complicate pregnancy. However, a symptomatic carrier without vital organ involvement can have an uncomplicated pregnancy and deliver a healthy infant.

Related Experiment Videos

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Metabolic Disorders

Background:

  • Fabry disease is a rare X-linked lysosomal storage disorder.
  • Pregnancy complications in Fabry disease patients are infrequently documented.
  • Understanding Fabry disease in pregnancy is crucial for patient management.

Observation:

  • A 36-year-old pregnant woman with known Fabry disease presented with typical symptoms.
  • She experienced acroparesthesias, tinnitus, and hearing loss during gestation.
  • The patient was a primigravida, indicating her first pregnancy.

Findings:

  • The patient successfully delivered a healthy infant at term.
  • The infant was unaffected by Fabry disease.
  • The pregnancy was uncomplicated despite the mother's symptomatic Fabry disease.

Implications:

  • Symptomatic Fabry carriers may have successful pregnancies if vital organs are not involved.
  • This case highlights the importance of individualized risk assessment in pregnant Fabry patients.
  • Further research is needed to fully understand Fabry disease management during pregnancy.