RESUMO
Niemann-Pick disease (NPD) is an inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase coded by SMPD1 gene. In contrast with type A NPD, a severe neurodegenerative disease of infancy, type B NPD patients have little or no neurodegeneration, and frequently survive into adulthood. Although over 100 mutations have been found within the SMPD1 gene causing NPD, there was only one report about SMPD1 mutation status of a Korean NPD patient. We report a case of a 32-yr-old female, who presented with thrombocytopenia without any neurologic involvement. Hepatosplenomegaly was detected by both physical examination and imaging studies, and a thoracic radiograph examination showed a pattern of interstitial lung disease. Biochemical tests revealed increased liver enzymes, cholesterol, triglyceride, and LDL-cholesterol, and decreased HDL-cholesterol. Sea-blue or foamy vacuolated histiocytes occurred in bone marrow and liver. Sequencing analysis of SMPD1 using genomic DNA from peripheral leukocytes identified a compound heterozygote of two mutations at exon 2: p.E246K and p.A357V. The former is a known mutation in an Italian patient, and the latter has not been reported yet. She has received oral rosuvastatin to treat hyperlipidemia at a dose of 10 mg per day for 4 months. This is the second report in which the mutation of SMPD1 gene was detected in a Korean NPD patient. The active genetic analysis of SMPD1 gene in patients with typical findings of type B NPD would enable us to facilitate diagnosis as well as to accumulate data on molecular characteristics of Korean NPD patients.
Assuntos
Adulto , Feminino , Humanos , Gravidez , Sequência de Bases , Células da Medula Óssea/patologia , Coreia (Geográfico) , Fígado/patologia , Doença de Niemann-Pick Tipo B/diagnóstico , Síndrome do Histiócito Azul-Marinho/diagnóstico , Análise de Sequência de DNA , Esfingomielina Fosfodiesterase/genética , Tomografia Computadorizada por Raios XRESUMO
The idiopathic hypereosinophilic syndrome is a disorder marked by the sustained overproduction of eosinophils. The disease is characterized clinically by damage to multiple organs due to eosinophilic infiltration and mediator release rather than by the level of the absolute blood eosinophil count. We report a case of hypereosinophilic syndrome presenting multiple organ damages with eyeball involvement.
Assuntos
Eosinófilos , Síndrome Hipereosinofílica , Traumatismo MúltiploRESUMO
BACKGROUND: The outcome of hematopoietic stem cell transplantation (HSCT) for patients with severe aplastic anemia (SAA) in Seoul National University Hospital was analyzed retrospectively. METHODS: Between January, 1990 and March, 1999, 25 patients with SAA underwent HSCT. Their medical records were reviewed. Statistical analyses were done about survival and complication after HSCT. RESULTS: The median age of patients was 22 (range, 14~43) and male to female ratio was 18 : 7. Twenty two were HLA matched non- identical siblings. Three were one identical twin, one one-locus mismatched father and one HLA matched unrelated donor, respectively. Conditioning regimens were CY/TLI (cyclophosphamide, total lymphoid irradiation) for 18 patients, CY/ATG (CY, antithymocyte globulin) for 3, CY/ buffy (CY, unirradiated buffy- coat) for 2, CY/ ATG/TLI for 1, BU/CY (busulfan, CY) for 1. For prophylaxis of graft-versus-host disease (GVHD), cyclosporine and methotrexate were used in all patients except for identical twin. The median nucleated cell dose given to patients was 4.5x108/kg (range, 2.0~5.9). All evaluable patients achieved absolute neutrophil count of 500/microliter after median 17 days of HSCT (range, 12~27) and untransfused platelet count over 20,000/microliter after median 21 days of HSCT (range, 13~67). Six patients (24%, grade I : 3, II : 1, III : 1, IV : 1) developed acute GVHD and 8 (32%, limited : 4, extensive : 4) developed chronic GVHD. Hepatic venoocclusive disease (VOD) occurred in 2 patients (8%). Rejection occured in 4 patients (16 %), but among 22 allogeneic transplant recipients from HLA matched siblings, only one (5%) lost graft. After a median follow-up of 32 months (range 9~120 months), 5 year overall survival of all patients was 87%, and that of 22 allogeneic recipients from HLA matched sibling donors was 95%. Four patients (16%) died. Causes of death were VOD in one case, rejection with pneumonia one, acute GVHD one. One died from traffic accident in a cured state. CONCLUSION: Experiences from our center suggest that HSCT is an effective treatment for patients with severe aplastic anemia. Long- term survival is especially excellent for patients who have matched related donors.
Assuntos
Feminino , Humanos , Masculino , Acidentes de Trânsito , Anemia Aplástica , Causas de Morte , Ciclosporina , Pai , Seguimentos , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Células-Tronco Hematopoéticas , Prontuários Médicos , Metotrexato , Neutrófilos , Contagem de Plaquetas , Pneumonia , Estudos Retrospectivos , Seul , Irmãos , Doadores de Tecidos , Transplante , Transplantes , Gêmeos Monozigóticos , Doadores não RelacionadosRESUMO
Eosinophilia accompanied by eosinophilic invasion and organ dysfunction may develope idiopathic hypereosinophilic syndrome. Any organ can be involved including bone marrow, lung, skin, heart, gastrointestinal tract and nervous system. Cough, dyspnea, pleural effusion or chest pain are common pulmonary manifestation, and they may be attributed to parenchymal infiltration, pulmonary embolism or heart failure. We report a 43-year-old woman with idiopathic hypereosinophilic syndrome involving bone marrow, skin, and lung. The patient developed acute dyspnea and chest pain. High resolution CT demonstrated multiple wedge-shaped segmental involvement with pleural effusion thought to be a pulmonary infarction or heart failure. Echocardiography could not find any abnormality. Lung biopsy showed interstitial eosinophilic infiltration with increased eosinophils in BAL fluid. She was treated with high dose corticosteroid and hydroxyurea. Within few days, most of her symptoms disappeared and chest radiography nearly cleared up.
Assuntos
Adulto , Feminino , Humanos , Biópsia , Medula Óssea , Dor no Peito , Tosse , Dispneia , Ecocardiografia , Eosinofilia , Eosinófilos , Trato Gastrointestinal , Coração , Insuficiência Cardíaca , Hidroxiureia , Síndrome Hipereosinofílica , Pulmão , Sistema Nervoso , Derrame Pleural , Embolia Pulmonar , Infarto Pulmonar , Radiografia , Pele , TóraxRESUMO
A case of IgA lambda nonsecretory multiple myeloma in a 66-year-old man was reported. Despite of the osteolytic lesions both protein electrophoresis and protein immunoelectrophoresis of serum and urine of the patient were normal. Bone marrow biopsy at iliac crest showed 8% plasma cells and aspiration cytology of the lesion of rib revealed 73% plasma cells. When examined by immunofluorescence with monospecific antisera the cytoplasm of the immature plasma cell showed predominantly the presence of IgA and lambda chains.
Assuntos
Idoso , Humanos , Biópsia , Medula Óssea , Citoplasma , Eletroforese , Imunofluorescência , Soros Imunes , Imunoeletroforese , Imunoglobulina A , Mieloma Múltiplo , Plasmócitos , CostelasRESUMO
No abstract available.