CLINICAL CASES   

Gazzetta Medica Italiana Archivio per le Scienze Mediche 2010 February;169(1):15-8

Copyright © 2010 EDIZIONI MINERVA MEDICA

language: English

Management of pregnant patient affected by Gaucher disease: case report

Stradella L. ¹, Stradella C. ², Giordano V. ¹, La Rezza F. ¹, Ateniese F. ³, Sorrentino F. ¹

¹ Dipartimento di Scienze Ginecologiche, Ostetriche e della Riproduzione, Seconda Università degli Studidi Napoli POSMdP degli Incurabili, Napoli, Italia 2 Facoltà di Scienze Biologiche, Università degli Studi di Napoli Federico II, Napoli, Italia 3 Facoltà di Scienze Biotecnologiche, Università degli Studi di Napoli Federico II, Napoli, Italia

We present a case of a 25-year-old lady pregnant at 37th week affected by Gaucher disease. About her clinical history, the patient reports normochromic normocitic anaemia, thrombocytopenia, hypertension and proteinuria. Gaucher disease is a rare autosomal recessive metabolic disorder caused by lack of a lysosomal enzyme (beta-glucosidase) which cause a heavy swelling of spleen and liver, bone damage (osteoporosis, spontaneous fractures), growth deficit in children, anaemia, bleeding tendency and neurological damages in some forms. The present study describe the management of the patient related to severe complicances derived by basic disease and demonstrate that there is no contraindication to pregnancy in women with Gaucher disease.