losartan-potassium and Gaucher-Disease

A case of Gaucher's disease associated with pregnancy is reported. Although clinical symptoms were not present, portal hypertension was detected by ultrasound in the 13th week of pregnancy. Maternal anemia implied the use of erythropoietin from the 33rd week onwards. Good perinatal and maternal outcomes were achieved and there were no hemorrhagic complications.

Topics: Adult; Blood Transfusion; Cesarean Section; Combined Modality Therapy; Erythropoietin; Female; Gaucher Disease; Humans; Pregnancy; Pregnancy Complications; Recombinant Proteins

The Orphan Drug Act has successfully stimulated the production of many orphan products for a number of orphan diseases. The success of its exclusive marketing provision in bringing otherwise unprofitable products to market has attracted the attention of manufacturers who use this provision to gain a monopoly for products with much larger annual sales than were contemplated by the original legislation. Corrective legislation to close this loophole is being prepared for introduction to Congress.

Topics: Adenosine Deaminase; Administration, Topical; Botulinum Toxins; Consumer Advocacy; Cyproterone Acetate; Drug Evaluation; Drug Industry; Erythropoietin; Gaucher Disease; Glucosylceramidase; Humans; Marketing of Health Services; Metronidazole; Orphan Drug Production; Trientine

Gaucher disease (GD) is an inherited disorder characterized by excessive accumulation of glucocerebroside in cells due to a non-functional glucocerebrosidase that is linked to programmed cell death pathways. Although clinical manifestations vary, type II GD is the most severe phenotype characterized by endoplasmic reticulum (ER) stress, neurological dysfunction, and anemia. Recombinant human erythropoietin (EPO) has been very popular for treating renal anemia and recently was shown to have extra-hematopoietic effects including neuroprotective properties. EPO's hematopoietic and neuroprotective effects prompted us to test EPO's beneficial action on type II GD patient cells. Initially, to examine the responsiveness of type II GD cells to EPO, the expression of the EPO receptor was determined at mRNA and protein levels. EPO effects on signaling pathways and ER stress in GD cells were also investigated. Finally, the proliferative effect of EPO on GD cells was verified. We found that EPO stimulated signaling pathways, enhanced the expression of glucocerebrosidase, reduced ER stress marker protein levels, and enhanced the proliferation rate of type II GD patient cells. This novel approach involving a beneficial role of EPO in GD should provide insights into new concepts for treating GD.

Topics: Apoptosis; Cell Proliferation; Cell Survival; Cells, Cultured; Endoplasmic Reticulum Stress; Erythropoietin; Gaucher Disease; Glucosylceramidase; Humans; Mutation; Phosphorylation; Receptors, Erythropoietin; Recombinant Proteins; Signal Transduction

Topics: Biotechnology; Drug Approval; Drug Industry; Drugs, Generic; Erythropoietin; Gaucher Disease; Glucosylceramidase; Human Growth Hormone; Massachusetts; Models, Molecular; Receptors, Erythropoietin

Topics: Adolescent; Adult; Aged; Child; Erythropoietin; Gaucher Disease; Humans; Middle Aged

Topics: Adult; Anemia; Erythropoietin; Female; Gaucher Disease; Humans; Recombinant Proteins

Topics: Adult; Anemia; Erythropoietin; Female; Gaucher Disease; Humans; Recombinant Proteins