Enfermedad de Gaucher: una enfermedad multisistémica
- 1 Unidad de Enfermedades Minoritarias Sistémicas. Servicio de Medicina Interna. Complexo Hospitalario de Vigo
- Cardoso, M Teresa
ISSN: 0304-4866, 1989-3922
Year of publication: 2021
Volume: 82
Issue: 1
Pages: 18-22
Type: Article
More publications in: Galicia Clínica
Sustainable development goals
Abstract
Gaucher disease is a rare autosomal recessive disorder due to the absence of the enzyme glucocerebrosidase, causing accumulation of glucocerebrosides in the reticulum endothelial system. It is manifested by hematologic abnormalities, hepatosplenomegaly, and neurological and bone manifestations. We present the case of a 19-year-old patient who was admitted due to generalized abdominal pain, fatigue and weakness, along with infiltrative involvement in vertebrae and both femoral diaphyses together with avascular necrosis of both femoral heads. Decreased levels of β-glucosidase were evidenced, and the genetic study found the p.Asn409Ser mutation in homozygosity. Enzyme replacement therapy achieved normalization of hematological figures after 6 months and of spleen and liver size after 1 year