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.

Management di paziente gravida affetta da morbo di Gaucher: Nostra esperienza

Sorrentino, F.
2010-01-01

Abstract

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11369/371364
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