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Am J Perinatol 2001; 18(3): 159-162
DOI: 10.1055/s-2001-14528
ORIGINAL ARTICLE

Copyright © 2001 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

DNA Diagnosis and Management of Hermansky-Pudlak Syndrome in Pregnancy

Joseph R. Wax1 , Sally Rosengren2 , Elaine Spector3 , Andrea J. Gainey2 , Charles J. Ingardia1
  • 1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Hartford Hospital, Hartford, Connecticut
  • 2Department of Pediatrics, Division of Human Genetics, Connecticut Children's Medical Center, Hartford and University of Connecticut School of Medicine, Farmington, Connecticut
  • 3UCHSC DNA Diagnostic Laboratory, Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado
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Publication History

Publication Date:
31 December 2001 (online)

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ABSTRACT

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet storage pool deficiency, and ceroid lipofuscin deposition. Sequelae including pulmonary fibrosis, colitis, and hemorrhagic diathesis can impact obstetric management. An 18-year-old primigravida with OCA was diagnosed during pregnancy with Hermansky-Pudlak syndrome by DNA analysis. Uneventful vaginal delivery occurred at term following prophylactic platelet transfusion. Women of northwestern Puerto Rican descent with OCA should be offered testing for HPS. Identification of affected individuals may permit optimal obstetric management.

KEYWORD

Oculocutaneous albinism - pregnancy - platelet storage pool disorder

REFERENCES

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