Initiation of Enzyme Replacement Therapy for an Adult Patient with Asymptomatic Type 1 Gaucher's Disease
スポンサーリンク
概要
- 論文の詳細を見る
A 27-year-old woman was admitted for further examination of thrombocytopenia. Symptoms were absent, but physical examination demonstrated hepatosplenomegaly without neurological abnormalities. Bone marrow examination revealed many Gaucher cells, and glucocerebrosidase activity from cultured skin fibroblasts was markedly reduced. A 1448C (L444P) mutation was detected on one allele of the glucocerebrosidase gene. Because magnetic resonance imaging (MRI) of the femora indicated severe infiltration of Gaucher cells into bone marrow, enzyme replacement therapy was initiated despite the absence of skeletal symptoms. Hematologic abnormalities, visceral and bone involvement have been improving. In cases of thrombocytopenia or hepatosplenomegaly, Gauchers disease should be suspected.(Internal Medicine 40: 716-721, 2001)
- 社団法人 日本内科学会の論文
著者
-
ISHIDA Fumihiro
Department of Internal Medicine, Shinshu University School of Medicine
-
Ito Toshiro
信州大学 内科学第二
-
Ito Toshiro
The Second Department Of Internal Medicine Shinshu University School Of Medicine
-
Ida Hiroyuki
The Department Of Pediatrics Jikei University School Of Medicine
-
Kiyosawa Kendo
The Second Department Of Internal Medicine Shinshu University School Of Medicine
-
Kitano K
The Second Department Of Internal Medicine Shinshu University School Of Medicine
-
MOMOSE Kayoko
The Second Department of Internal Medicine, Shinshu University School of Medicine
-
KITANO Kiyoshi
the Second Department of Internal Medicine, Shinshu University School of Medicine
-
TANAKA Naoki
the Department of Internal Medicine, Nagano Red Cross Hospital, the Second Department of Internal Me
-
SAITO Hiroshi
the Department of Internal Medicine, Nagano Red Cross Hospital
-
ITO Toshiro
the Department of Internal Medicine, Nagano Red Cross Hospital
-
MOMOSE Kayoko
the Department of Internal Medicine, Nagano Red Cross Hospital, the Second Department of Internal Me
-
ISHIDA Fumihiro
the Department of Internal Medicine, Nagano Red Cross Hospital, the Second Department of Internal Me
-
HORA Kazuhiko
the Second Department of Internal Medicine, Shinshu University School of Medicine
-
Ishida Fumihiro
Department Of Internal Medicine Shinshu University School Of Medicine
-
Ishida Fumihiro
The Second Department Of Internal Medicine Shinshu University School Of Medicine
-
Hirabayashi Kazuko
The Second Department Of Internal Medicine Shinshu University School Of Medicine
-
Kitano Kiyoshi
The Second Department Of Internal Medicine Shinshu University School Of Medicine
-
Kogure Katsuhiro
Division Of Genetic Therapeutics Center For Molecular Medicine Jichi Medical School Crest Japan Scie
-
Hora Kazuhiko
Showa Inan General Hospital Komagane Jpn
-
Hora Kazuhiko
Department Of Hematology Nagano Red Cross Hospital
-
Kiyosawa Kendo
The Second Department Of Internal Medicine Shinshu University School Medicine
-
Tanaka Naoki
The Department Of Internal Medicine Nagano Red Cross Hospital The Second Department Of Internal Medi
-
Kodaira H
The Second Department Of Internal Medicine Shinshu University School Of Medicine
-
Saito H
The Department Of Internal Medicine Nagano Red Cross Hospital
-
MOMOSE Kayoko
the Department of Internal Medicine, Nagano Red Cross Hospital
-
ISHIDA Fumihiro
the Department of Internal Medicine, Nagano Red Cross Hospital
関連論文
- Linkage of expression of chemokine receptors (CXCR3 and CCR4) and cytotoxic molecules in peripheral T cell lymphoma, not otherwise specified and ALK-negative anaplastic large cell lymphoma
- Serum HCV RNA levels during early phase of recombinant interferon alfa-2a (Roferon A) therapy for chronic hepatitis C and efficacy of short-term therapy with earlier loss of viremia
- Extracorporeal shock wave lithotripsy of pancreatic duct stones and patient factors related to stone disintegration
- Insulin and Somatostatin Releasing Islet Cell Tumor Caused Hypoglycemia
- Duodenal Somatostatinoma and Erythrocytosis in a Patient with Von Hippel-Lindau Disease Type 2A
- Reassessment of K-ras Mutations at Codon 12 by Direct PCR and Sequencing from Tissue Microdissection in Human Pancreatic Adenocarcinomas
- Clinical Pharmacokinetic Study of Arsenic Trioxide in an Acute Promyelocytic Leukemia (APL) Patient : Speciation of Arsenic Metabolites in Serum and Urine(Pharmacology)
- P6-35 Efficacy and pharmacokinetics of arsenic trioxide for treatment of acute promyelocytic leukemia(APL) : 1. Efficacy for APL of Arsenic trioxide(ATO)(DRUG METABOLISM/CARCINOGENICITY)(GENERAL SESSION BY POSTER PRESENTATION)(Proceedings of the 31st Annu
- Prevalence and distribution of extrapancreatic lesions complicating autoimmune pancreatitis
- Corticosteroid-responsive pancreatic cyst found in autoimmune pancreatitis
- Close Resemblance between Chemokine Receptor Expression Profiles of Lymphoproliferative Disease of Granular Lymphocytes and Their Normal Counterparts in Association with Elevated Serum Concentrations of IP-10 and MIG
- Intestinal Diffuse Large B-Cell Lymphoma Associated with Celiac Disease : A Japanese Case
- Idiopathic Myelofibrosis with Refractory Massive Ascites
- Initiation of Enzyme Replacement Therapy for an Adult Patient with Asymptomatic Type 1 Gaucher's Disease
- Liver cirrhosis with marked thrombocytopenia and highly elevated serum thrombopoietin levels
- Polymorphisms of platelet membrane glycoprotein Ib α and plasma von Willebrand factor antigen in coronary artery disease
- Low prevalence of a polymorphism of platelet membrane glycoprotein Ibβ associated with noenatal alloimmune thrombocytopenic purpura in Asian populations
- Fabry disease in patients receiving maintenance dialysis
- High Incidence of Thrombosis in Fabry's Disease
- Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis
- TWO NOVEL MUTATIONS IN THE α-GALACTOSIDASE GENE IN JAPANESE CLASSICAL HEMIZYGOTES WITH FABRY DISEASE
- -441- HEMODYNAMIC, RENAL AND HORMONAL EFFECTS OF α-HUMAN ATRIAL NATRIURETIC PEPTIDE INJECTION IN PATIENTS WITH CONGESTIVE HEART FAILURE
- Targeted Integration of Foreign DNA Into a Defined Locus on Chromosome 19 in K562 Cells Using AAV-Derived Components
- Urinary excretion of the vitron receptor (integrin αυβ_3) in patients with non-insulin dependent diabetes mellitus
- Sclerosing cholangitis associated with autoimmune pancreatitis
- Hilar and Pancreatic Gallium-67 Accumulation is Characteristic Feature of Autoimmune Pancreatitis
- Growth Inhibition and Differentiation of Pancreatic Cancer Cell Lines by PPARγ Ligand Troglitazone
- Zygomycosis presenting as acute myocardial infarction during hematological malignancies
- Seroepidemiological Studies on Silk Road Ethnic Groups
- A case of primary follicular lymphoma of the duodenum with BCL-2 gene rearrangement
- An Asian Variant of Intravascular Lymphoma Diagnosed Through Splenectomy
- Clinical Significance of Measuring the Blood Concentration of Itraconazole Oral Solution in the Field of Hematology
- Efficient Production of Adeno-associated Virus Vectors Using Split-type Helper Plasmids
- Gemtuzumab ozogamicin-induced long-term remission in a woman with acute myelomonocytic leukemia and bone marrow relapse following allogeneic transplantation
- Effect of cyclosporin A on patients with lupus nephritis: a review of the literature
- Acute Myelogenous Leukemia with a t(2 ; 17 ; 4)(p13 ; q21 ; p16)Aberration : Effective Treatment with All-Trans Retinoic Acid and Granulocyte Colony-Stimulating Factor
- Cold agglutinin disease by autoanti-i blood type antibody associated with B cell chronic lymphocytic leukemia
- Determination of the Antifungal Agent Voriconazole in Human Plasma Using a Simple Column-Switching High-Performance Liquid Chromatography and Its Application to a Pharmacokinetic Study
- Effective Blood Concentration of Micafungin for Pulmonary Aspergillosis(Pharmacology)
- Analysis of the Blood Level of Micafungin Involving Patients with Hematological Diseases : New Findings Regarding Combination Therapy with Tacrolimus(Pharmacology)
- Initiation of Enzyme Replacement Therapy for an Adult Patient with Asymptomatic Type 1 Gaucher's Disease
- Idiopathic Myelofibrosis with Refractory Massive Ascites
- Lymphadenopathy of IgG4-related sclerosing disease : three case reports and review of literature
- Graft failure in cord blood transplantation successfully treated with short-term reduced-intensity conditioning regimen and second allogeneic transplantation
- Benign, Non-Parasitic Hepatic Cyst Causing Obstructive Jaundice
- Ph^1-Positive Acute Lymphoblastic Leukemia in a Patient with a Germline MEN1 Gene Mutation
- CD56^+ acute myeloid leukemia with monosomy 7
- Current Problems of Hepatitis C Virus Infection in Hemodialysis Patients
- Non-Alcoholic Steatohepatitis and GB Virus-C/Hepatitis G Virus Infection: Is There a Causal Relationship?
- Esophagomediastinal Fistula as a Complication of Tuberculous Mediastinal Lymphadenitis
- Spontaneous Regression of a Bulla with the Development of Adenocarcinoma of the Lung
- Progressive Multifocal Leukoencephalopathy in a Patient with Acquired Immunodeficiency Syndrome (AIDS) Manifesting Gerstmann's Syndrome
- Peripheral T-cell Lymphoma Following Diffuse Large B-cell Lymphoma Associated with Celiac Disease
- Richter Transformation in the Brain from Chronic Lymphocytic Leukemia
- Liver Dysfunction and Thrombocytopenia Diagnosed as Intravascular Large B-cell Lymphoma Using a Timely and Accurate Transjugular Liver Biopsy
- Aggressive Granular Lymphocyte Leukemia of Natural Killer Cell Type in an Elderly Patient.
- T-Cell Non-Hodgkin's Lymphoma of the Lung.
- Acquired Amegakaryocytic Thrombocytopenic Purpura with Humoral Inhibitory Factor for Megakaryocyte Colony Formation.
- Adenovirus Fulminant Hepatic Failure: Disseminated Adenovirus Disease after Unrelated Allogeneic Stem Cell Transplantation for Acute Lymphoblastic Leukemia
- Insulin-Dependent Diabetes Mellitus Showing Microangiopathic Hemolytic Anemia and Chronic Disseminated Intravascular Coagulation.