OLIVERI Maria Beatriz
congresos y reuniones científicas
Biphosphonate and pregnancy
MASTAGLIA SR; WATMAN N; OLIVERI B
Congreso; XXV Reunión Anual AAOMM; 2008
Background: Type 1 Gaucher disease is the most common lysosomal storage disorder and is associated with disabling bone involvement. The choice treatment for this disease is enzyme replacement therapy (ERT). Bisphosphonate treatment for osteopenia and osteoporosis secondary to GD1 has been suggested. Case Report: A 22 year-old woman diagnosed with GD1 at the age of 4 years, presenting with severe bone involvement. The patient had received ERT intermittently since the enzyme was not always available. Due to severe bone involvement (multiples vertebral fractures and severe bone mineral density diminution), intravenous administration of 60 mg of pamidronate every 3 months was indicated. Prior to initiating pamidronate therapy, the patient was counseled to use reliable contraceptive method during treatment. Fifteen days after receiving the last infusion the patient informed she was pregnant. Results: Pregnancy was uneventful until week 37 of gestation when preeclampsia was diagnos ed, and cesarean delivery was performed. A baby girl was delivered, birth weight 2230 g, length 45 cm, cephalic perimeter 32 cm, and showing no evidence of skeletal abnormality or clinical signs of hypocalcemia. Development of the baby was normal, with no significant pathology. At the age of 15 months height, body weight, lumbar spine and total skeleton bone density were within normal range. Conclusions: In the present case, we found no evidence of adverse effects of pamidronate treatment on pregnancy, or on the mother and baby´s health to date. It could be hypothesized that pamidronate treatment exerted a protective effect on bone during pregnancy and lactation in the present case.