title: Gaucher disease with nephrotic syndrome: response to enzyme replacement therapy.
abstract: Nephrotic syndrome in patients with Gaucher disease is rare; most of the few reported cases have had a well-defined glomerulopathy often with Gaucher cells in the glomeruli. We report the case of a 54-year-old woman with Gaucher disease, who had splenectomy at age 25, preeclampsia with renal biopsy disclosing only endotheliosis at age 32, and improvement of proteinuria and reappearance of heavy proteinuria (7.2 g/24 h) at age 41. Renal biopsy disclosed Gaucher cells in glomeruli and interstitium. The patient did not receive therapy specifically for glomerular disease. Enzyme replacement, begun 4 years later and maintained until now, was associated with amelioration of systemic symptoms and virtual disappearance of proteinuria with a follow-up of 10 years. This case apparently is the first instance of nephrotic syndrome consequent to Gaucher disease itself and successful treatment with specific enzyme replacement.
authors.affiliation: Department of Pathology, Cedars-Sinai Medical Center, and UCLA School of Medicine, Los Angeles, CA 90048, USA.
authors.forename: Domenico
authors.initials: D
authors.lastname: Santoro
authors.forename: Barry E
authors.initials: BE
authors.lastname: Rosenbloom
authors.forename: Arthur H
authors.initials: AH
authors.lastname: Cohen
mesh_terms: D004730:Endothelium, Vascular / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000201:enzymology* / Q000473:pathology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D007678:Kidney Glomerulus / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D008854:Microscopy, Electron; D008875:Middle Aged; D009404:Nephrotic Syndrome / Q000188:drug therapy* / Q000201:enzymology / Q000473:pathology
chemical_list: C070292:alglucerase; D005962:Glucosylceramidase