Splenectomy in Gaucher Disease: New Management Dilemmas 722
| Autor: | Edward I. Ginns, Larry Bauer, Ellen Sidransky, Donna M. Krasnewich, Kathleen Dietrich, Suvimol Hill |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
Pathology
medicine.medical_specialty Anemia business.industry medicine.medical_treatment Splenectomy Hepatosplenomegaly Spleen Enzyme replacement therapy Disease medicine.disease medicine.anatomical_structure Alglucerase Pediatrics Perinatology and Child Health medicine medicine.symptom business Glucocerebrosidase medicine.drug |
| Zdroj: | Pediatric Research. 43:125-125 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-199804001-00743 |
| Popis: | Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is currently managed with enzyme replacement therapy using a mannose-terminated form of human glucocerebrosidase. Although most patients with type 1 Gaucher disease respond to this therapy, we describe an Ashkenazi patient with type 1 Gaucher disease with massive hepatosplenomegaly, anemia, and thrombocytopenia, who despite two years of aggressive high dose enzyme replacement therapy with Alglucerase, ultimately required a splenectomy for effective management. The removed spleen weighed 6.5kg and had nodular appearing external surfaces and focal subcapsular infarcts. Serial sections showed rubbery and focally fibrotic surfaces. This correlated with his presurgical axial T2-weighted MRI, which demonstrated multiple low signal intensity nodules not seen on T1-weighted views. Postoperatively the patient has remained stable with normal blood and platelet counts. |
| Databáze: | OpenAIRE |
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