title: Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases.
abstract: Gaucher disease is a genetic lipid storage disease and represents a potentially serious health problem. It arises from a deficiency of glucocerebrosidase activity with secondary accumulation of large quantities of glucocerebroside. Symptoms are usually multisystemic, often debilitating or disabling, and sometimes disfiguring, and they can lead to death. We report objective clinical response's to repeated infusion of human placental and recombinant glucocerebrosidase in 2 patients with type 1 Gaucher disease and increased hemoglobin levels and platelet counts. Splenic volume decreased during the period of enzyme administration. Enzyme replacement therapy has improved the treatment of type 1 Gaucher disease by safely and effectively arresting, decreasing, or normalizing many of its major signs and symptoms. Consideration by physicians must be given to Gaucher disease, and appropriate treatments must be given when confronted with cryptogenic pancytopenia or hepatosplenomegaly.
authors.affiliation: Second Department of Internal Medicine, Nagoya City University Medical School, Japan. tsuboi@amugw.aichi-med-u.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Tsuboi
authors.forename: S
authors.initials: S
authors.lastname: Iida
authors.forename: M
authors.initials: M
authors.lastname: Kato
authors.forename: Y
authors.initials: Y
authors.lastname: Hayami
authors.forename: I
authors.initials: I
authors.lastname: Hanamura
authors.forename: K
authors.initials: K
authors.lastname: Miura
authors.forename: S
authors.initials: S
authors.lastname: Harada
authors.forename: H
authors.initials: H
authors.lastname: Komatsu
authors.forename: S
authors.initials: S
authors.lastname: Banno
authors.forename: A
authors.initials: A
authors.lastname: Wakita
authors.forename: M
authors.initials: M
authors.lastname: Nitta
authors.forename: R
authors.initials: R
authors.lastname: Ueda
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000172:deficiency / Q000235:genetics / Q000627:therapeutic use*; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D009679:Nuclear Family; D010198:Pancytopenia / Q000188:drug therapy* / Q000209:etiology; D010375:Pedigree; D011993:Recombinant Fusion Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D013163:Splenomegaly / Q000188:drug therapy* / Q000209:etiology
chemical_list: D011993:Recombinant Fusion Proteins; D005962:Glucosylceramidase