Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Type I dyserythropoietic anaemia was diagnosed in an infant, who presented with respiratory distress and hepatosplenomegaly soon after birth. Anaemia became manifest during the neonatal period. The case clearly proves the congenital nature of the disease. Abnormalities of the myelopoietic series indicate that it might be a stem cell disease and the presence of skeletal anomalies of the hands suggests a genetic relationship to some cases of Fanconi and Diamond anaemia. No serum lipid or vitamin E deficiency was present as in type II congenital dyserythropoietic anaemia. Serial serum ferritin determinations indicated that iron stores are increased early in type I congenital dyserythropoietic anaemia despite no transfusion load.
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PMID:Type I congenital dyserythropoietic anaemia with myelopoietic abnormalities and hand malformations. 69 20

The patient is 11-year-old girl who was diagnosed as having hybrid acute leukemia (myeloid and lymphoid) from morphological (cytochemistry) findings, immunophenotype and genotype. During reinduction therapy after a second relapse, she presented hepatosplenomegaly and the remittent fever unresponsive to the intensified antibiotics. The diagnosis of reactive histiocytosis was made because of the remarkable elevation of serum ferritin value and proliferation of mature histiocytes in the bone marrow. Treatment with etoposide resulted in the disappearance of her fever and other symptoms. The subsequent refractoriness to platelet transfusion was also overcome by etoposide (p.o.) therapy. The results suggested that the treatment with etoposide might be effective for reactive histiocytosis and the related refractory state to platelet transfusion during therapy for leukemia.
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PMID:[Effectiveness of etoposide on reactive histiocytosis and refractory state to platelet transfusion during therapy of leukemia: case report]. 194 43

We report a case of infantile acute leukemia with t(16; 21) (p11; q22). The patient was a phenotypically normal one-year-old girl without lymphadenopathy or hepatosplenomegaly. Her peripheral blood at diagnosis showed anemia, thrombocytopenia, and many circulating blasts. Bone marrow blasts were monocytoid with fine reticular nuclear chromatin, abundant grayish-blue cytoplasm with occasional pseudopods or cytoplasmic projections and active hemophagocytosis. Serum levels of lysozyme and ferritin were normal. These blasts were not stained with butyrate esterase and immunologic study showed KOR-P77+ (anti-megakaryocyte monoclonal antibody), MY9+, Ia-. Electron microscopic examination failed to show platelet peroxidase activity. Remission was not induced by mini-COAP or VP-16 and the patient died of measles pneumonitis. The patient's blasts took typical appearance of megakaryoblasts later in the course, although some of them retained the ability of hemophagocytosis observed in the original blasts. This case is considered to be quite atypical since leukemic cells with active hemophagocytosis, megakaryoblastic appearance and t(16; 21) (p11; q22) have not been reported in the literature.
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PMID:[Acute leukemia with active hemophagocytosis, positive immunologic markers for the megakaryocyte-platelet lineage, and translocation (16; 21) (p11; q22]. 231 8

We report a case of malignant histiocytosis diagnosed by liver-spleen biopsy under laparoscopy. A 49-year-old woman was admitted to our hospital with thrombocytopenia, moderate anemia and hypoproteinemia. Her bone marrow findings revealed erythroid and megakaryocyte hyperplasia, and the serum ferritin concentration was 2,250 ng/ml though she had not received any blood transfusions. Ferrokinetics analysis showed the pattern of ineffective erythropoiesis, and the half-lives of erythrocytes and platelets were both shortened. Her hepatosplenomegaly gradually increased accompanied by increasing serum ferritin level to 10,000 ng/ml. Liver-spleen biopsy was carried out under laparoscopy and revealed infiltration of atypical histiocytes with erythrophagocytosis, which were positive for S-100 and ferritin but negative for lysozyme. The rate of glycosylation in whole serum ferritin, analyzed by using concanavalin-A binding method, showed that her glycosylated ferritin content was only 8.3%, whereas in sera after iron overloading, it was about 70%. Serum isoferritin profiles by isoelectric focussing were studied, and isoferritin pattern from malignant histiocytosis was the same as that in iron overloading after neuraminidase treatment. These findings suggest that serum ferritin is synthesized in proliferating histiocytes and released in the plasma as a nonsecretory type (nonglycosylated ferritin) in this case.
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PMID:[Mechanism of hyperferritinemia in a case of malignant histiocytosis]. 238 9

A 3.5-year-old male Golden Retriever with lethargy, generalized lymphadenopathy, and hepatosplenomegaly was determined to have malignant histiocytosis, based on the morphologic appearance of neoplastic cells by light and electron microscopic examination, evidence of erythrophagocytosis, the presence of diffuse nonspecific esterase activity, and immunohistochemical demonstration of vimentin intermediate filaments. Because of the appearance of abundant iron stores in the bone marrow, serum was obtained for determination of iron, total iron binding capacity, and ferritin values. Serum ferritin concentrations were markedly increased. Measurement of serum ferritin concentrations may be useful in supporting a diagnosis of malignant histiocytosis, and the monitoring of serum ferritin concentrations may be useful for assessing treatment and regression of the disease.
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PMID:Hyperferritinemia associated with malignant histiocytosis in a dog. 782 79

Three cases of familial haemophagocytic lymphohistiocytosis are presented with lung infiltration by haemophagocytic histiocytes. In all patients the diagnosis was based on hepatosplenomegaly, thrombocytopenia and anaemia, abnormal increase in triglycerides, ferritin and LDH, hypofibrinogenaemia and lymphohistiocytosis with haemophagocytosis in bone marrow. Two patients died of respiratory failure due to interstitial pneumonia. In these two patients the pneumonia was obscured and misinterpreted by the pathologists. A careful re-examination revealed lymphohistiocytosis and haemophagocytic cells within the lung parenchyma. The third patient showed alveolar wall infiltration by haemophagocytic histiocytes and lymphocytes. In early childhood acute or recurrent interstitial pneumonia should prompt a search for haemophagocytic histiocytes, and familial haemophagocytic lymphohistiocytosis should be included in the differential diagnosis.
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PMID:Familial haemophagocytic lymphohistiocytosis. A report of three cases with unusual lung involvement. 786 84

A five-month-old girl developed high fever, erythema, hepatosplenomegaly and generalized lymphadenopathy. Laboratory examinations revealed elevated peripheral leukocyte counts, C-reactive protein, lactate dehydrogenase and serum ferritin level. Pathologic examination of the lymph nodes revealed immunoblastic lymphadenopathy (IBL) on the basis of the complete effacement of the normal architecture, replacement by a diffuse infiltrate composed of immunoblasts, plasmacytoid cells and small lymphocytes, and an abortive proliferation of blood vessels. B-cells and T-cells were nearly equally mixed throughout the lymph nodes. No rearrangements of the B-cell immunoglobulin and T-cell receptor genes were detected. The patient was initially treated with alpha-interferon with dramatic efficacy. After relapse, however, the disease was well controlled with cyclosporin A (CyA) and subsequently with combination regimens of CyA, deoxyspagarin and azathioprine with fair success. An alternating regimen of 6-mercaptopurine, cyclophosphamide and methotrexate was then instituted which continued the complete remission for 12 months. The effects of immunosuppressants in the treatment of IBL merit investigation.
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PMID:Immunoblastic lymphadenopathy in a five-month-old girl: successful treatment with immunosuppressants. 807 3

Hereditary hemochromatosis is an autosomal recessive disorder, the gene for which occurs in approximately 10% of Americans, most of whom are unaffected heterozygotes. Approximately 5/1000 white Americans are homozygous and at risk of developing severe and potentially lethal hemochromatosis. The disorder affects numerous organ systems, but the most common symptoms are fatigue, palpitations, joint pains, and impotence; the most common signs are those that relate to hypothalamic, cardiac, hepatic or pancreatic dysfunction, including poor cold tolerance, impotence in males, amenorrhea in females, cardiac arrhythmias, dyspnea, edema, hepatosplenomegaly, spider telangiectases, ascites, deformity, swelling or limitation of motion of joints, weight loss, hyperpigmentation. Characteristic abnormalities of laboratory tests include elevated serum iron concentration, high transferrin saturation, elevated serum ferritin concentration, elevated serum transaminases, hyperglycemia and low values for thyroid-stimulating hormone (TSH) and gonadotropins. Death may be the result of cardiac arrhythmia, congestive heart failure, liver failure or liver cancer. Since many of these complications cannot be reversed once they have developed, early diagnosis and treatment are essential. In view of the high prevalence in the American population (prevalence varies with ethnic background), the low cost of diagnosis and treatment, the efficacy of treatment if begun early, and, on the other hand, high costs and low success rate of late diagnosis and treatment, systematic screening for hemochromatosis is warranted for all persons over the age of 20 years. The initial screening should be by measurement of serum iron concentration and transferrin saturation. The practice guideline provides a diagnostic algorithm for cases in which the serum transferrin saturation is 60% or greater. It also provides guidelines for clinical management.
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PMID:Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. 886 84

We report a 35-year-old man, who had been diagnosed with Weber-Christian disease, presented with acute onset of high fever, malaise, jaundice and hepatosplenomegaly with subcutaneous nodules. Laboratory tests showed elevated serum ferritin and liver enzymes, especially lactate dehydrogenase (LDH), with pancytopenia and coagulation abnormalities. Peripheral blood and bone marrow examinations showed erythro-, leuko- and thrombo-phagocytic histiocytes and macrophages. The patient developed the same clinical features seven years ago. Based on diagnosis of cytophagic histiocytic panniculitis, the patient was treated with steroid pulse therapy and oral cyclosporin A. The combination therapy caused a marked improvement in the clinical condition.
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PMID:A case of cytophagic histiocytic panniculitis: successful treatment of recurrent attacks with steroid pulse therapy and oral cyclosporin A. 925 59

This report details a case of infection associated hemophagocytic syndrome (IAHS). A 20-year-old female was admitted to our hospital with persistent high fever in July, 1994. Physical examination revealed high body temperature (40 degrees C), marked hepatosplenomegaly and no superficial lymph node swelling. Laboratory examination revealed leukopenia and abnormal liver function on admission. Serum ferritin levels were surprisingly elevated. The coagulation tests showed high FDP and D-dimer. Specific viral antibody titers were not elevated such as Epstein-Barr virus or Cytomegalovirus. Bone marrow examination revealed histiocytic hyperplasia with hemophagocytosis, and the histiocytes were well matured. We diagnosed IAHS. Corticosteroids were administered on the 3rd hospital day (methylprednisolone 1 g/day, 3 days), but persistent high fever and laboratory findings did not improve. So we tried etoposide (etoposide 200 mg/day, 5 days) therapy on the 13th hospital day. After administration of etoposide, she failed to recover from severe leukopenia and suffered from meningitis. We administered G-CSF, gamma-globulin and antibiotics for intensive supportive therapy. As the leukocyte count increased, her symptoms and laboratory data improved. There was no hemophagocytosis in her bone marrow before discharge. Recently, etoposide is said to be effective for reactive monocytic proliferation. Administration of etoposide was very effective for IAHS, although corticosteroids, were ineffective.
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PMID:[A case of IAHS (infection associated hemophagocytic syndrome) successfully treated with etoposide]. 942 72


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