Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To explore the clinical and pathological characteristics of hepatosplenic gammadelta T-cell lymphoma and its relationship with Epstein-Barr virus infection, the clinical features of a 9-year-old girl with hepatosplenic gammadelta T-cell lymphoma were investigated, the smears of bone marrow was stained with Wright' s stain, biopsies of bone marrow and liver specimen were embedded in plastic and sliced about 4 microm in thickness and routinely stained with HE staining, the immunohistochemical staining was used to mark the tumor cells, and EBER probes were used to detect Epstein-Barr virus RNA. The results showed that the girl presented with prolonged fever, anemia, thrombocytopenia, hepatosplenomegaly, chronic active Epstein-Barr virus infection, and elevated levels of serum ferritin and lactate dehydrogenase. Bone marrow aspirate revealed the infiltration of atypical lymphocytes in the bone marrow stroma. The liver biopsy specimen revealed the infiltration of lymphocytes in the sinusoids, which was positive for the T-cell associated marker CD3 and activated cytotoxicity-associated marker granzyme B. In-situ hybridization analysis with EBER probes revealed that the above-mentioned characteristics were negative in neoplastic cells. It is concluded that hepatosplenic gammadelta T-cell lymphoma is a disease with distinctive clinical, histopathologic, and phenotypic characteristics. Hepatic and/or splenic and/or bone marrow biopsy with combined phenotype is beneficial to diagnosis. Epstein-Barr virus infection is late event involving an already transformed gammadelta T-cell clone.
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PMID:[Hepatosplenic gammadelta T cell lymphoma and its relationship with Epstein-Barr virus infection]. 1720 79

We report three infants and one teenager with fatal virus-associated haemophagocytic syndrome (VAHS). Two infants were admitted to our hospital because of cardio-pulmonary arrest (CPA). The third infant was admitted to our department because of fever and liver dysfunction, and he was diagnosed as combined immunodeficiency with predominant T cell defect. The teenager was diagnosed as systemic lupus erythema (SLE) when she was 10 years old and admitted to our department because of fever and thrombocytopenia . The histological findings for the four patients' organs revealed many haemophagocytic cells . The patients were infected by Parainfluenza virus type 2 (PIV2), Enterovirus (EV), Cytomegalovirus (CMV), and Epstein-Barr virus (EBV), respectively. Their laboratory data revealed elevated levels of ferritin and IL-6, which also suggested virus-associated haemophagocytic syndrome (VAHS). Although aggressive therapies were performed in all cases, the outcome was fatal. Further investigation would be needed to clarify the mechanism of VAHS and an effective therapeutic regimen is needed.
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PMID:Virological and immunological characteristics of fatal virus-associated haemophagocytic syndrome (VAHS). 1723 99

Cases of fatal, acute, irreversible renal failure and cytopenias, including agranulocytosis and thrombocytopenia, have been disclosed in a postmarketing report on deferasirox, a few months after the European Union authorities and about a year after the FDA proceeded to its accelerated approval. No details on the incidence rate or the cause of these toxicities have yet been reported. Other toxic side effects include skin, gastric, auditory and ocular abnormalities, and hepatitis. Regular serum creatinine, blood counts and other toxicity monitoring as well as withdrawal of deferasirox from the patients affected and those with serum ferritin < 0.5 mg/l was recommended. Toxicity, inability to clear cardiac iron and high cost (60 euros/g) question the future universal role of deferasirox, by comparison with the safety and efficacy records of deferiprone, deferoxamine and their combination in the treatment of transfusional iron overload. Also questioned are the procedures adopted by regulatory authorities and the marketing methods of pharmaceutical companies on orphan drugs, which are of no benefit to thalassaemia patients in developing countries.
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PMID:Deferasirox: uncertain future following renal failure fatalities, agranulocytosis and other toxicities. 1748 Jan 73

Patients with human granulocytic anaplasmosis present with fever, thrombocytopenia, leukopenia, and an elevated aspartate transaminase level. Clinical and histopathologic features of severe disease suggest macrophage activation. Twenty-nine patients with human granulocytic anaplasmosis had higher ferritin, interleukin-10, interleukin-12 p70, and interferon- gamma levels than did control subjects matched for age and sex; severity correlated with triglyceride, ferritin, and interleukin-12 p70 levels. Several severely affected patients had cases that fulfilled macrophage activation syndrome diagnostic criteria. Macrophage activation and excessive cytokine production may belie tissue injury associated with Ananplasma phagocytophilum infection.
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PMID:Human granulocytic anaplasmosis and macrophage activation. 1757 79

We describe, to our knowledge, the first case of progressive neonatal liver failure due to neonatal haemochromatosis (NH) occurring in an infant with a gastroschisis and review the literature regarding these two conditions. A 1,665 g male infant with antenatally diagnosed gastroschisis was born with a severe coagulopathy, anaemia, thrombocytopenia, hypoglycaemia and jaundice. He developed progressive liver failure, complicated by necrotising enterocolitis. Serum ferritin was elevated at 1,459 microg/L. He died on day 40 and a limited post-mortem examination confirmed significant hepatic siderosis with fibrosis and cholestasis, and siderosis of the pancreas. Although no genetic aetiology for gastroschisis has been identified, an occasional inherited tendency has been observed. There is also evidence to support an autosomal recessive inheritance in NH.
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PMID:Neonatal haemochromatosis associated with gastroschisis. 1833 35

Neonatal hemochromatosis is a rare disease of iron metabolism, characterized by the excess accumulation of iron in the tissues. This occurs in utero and can lead to fetal demise or an infant who presents with advanced liver disease in the neonatal period. A case of neonatal hemochromatosis is reported in a 37-week infant who presented at birth with thrombocytopenia, coagulopathy, and abnormal liver imaging studies. The diagnoses of infection and metabolic errors were excluded before the confirmation of neonatal hemochromatosis was made. This diagnosis was confirmed by elevated ferritin levels and extrahepatic siderosis excluding the reticuloendothelial system. Anti-oxidant therapy was initiated with N-acetyl cysteine, selenium, vitamins C and E and intravenous immunoglobulin. The infant demonstrated a positive response and was discharged home with outpatient follow up. The clinical presentation of neonatal hemochromatosis is reviewed as well as diagnosis and treatment strategies.
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PMID:Neonatal hemochromatosis: a case report. 1936 27

Major thalassemia is one of the most common hemoglobinopathies in many Asian countries including Iran. Pharmacologic agents such as hydroxyurea have been known to enhance the production of fetal hemoglobin, and also an increase in total hemoglobin level has been repeatedly reported during hydroxyurea treatment in patients with sickle cell disease and in several patients with intermediate beta-thalassemia. We evaluated the long-term efficacy and safety of hydroxyurea in major beta-thalassemic patients. Forty-nine beta-thalassemic patients enrolled in the study. The mean follow-up time was 60 months. The mean dose of hydroxyurea was 10 mg/kg per day (8-15 mg/kg). Before starting hydroxyurea, all patients underwent routine biochemical laboratory tests. Patients with low platelet count (<100,000/mm3), neutropenia (polymorphonuclear neutrophil<1,200/mm3), pregnancy, and on interferon treatment were excluded.Twenty-eight out of 49 enrolled patients were females with the mean age of 18.38 years (10-40 years). The mean packed red cell transfusions during one year before starting of hydroxyurea was 22.75 units which decreased to 6.02 units after treatment (P<0.01). The mean ferritin level during the first period was 2751.44 ng/mL, but decreased to 1594.20 ng/mL after one year of hydroxyurea therapy (P<0.001).We observed a substantial and persistent increase in hemoglobin level and a significant decrease in blood transfusion. Hydroxyurea treatment was well-tolerated and it did not cause any hematopoietic suppression except in one patient who developed transient thrombocytopenia which resolved after short period of hydroxyurea cessation. We did not encounter any malignancies including leukemia in the five-year follow-up.
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PMID:Hydroxyurea therapy in 49 patients with major beta-thalassemia. 1940 Jun 8

A 76-year-old man presented with fever of unknown origin and renal dysfunction. Laboratory examination revealed anemia, thrombocytopenia, hypoalbuminemia, proteinuria, and elevations of C-reactive protein, lactic dehydrogenase, creatinine and ferritin. (18)F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) imaging showed FDG accumulation in the renal cortex and spleen. Based on the imaging study, renal biopsy was performed and histological diagnosis of intravascular large B-cell lymphoma (IVLBCL) was made. Renal impairment due to IVLBCL is uncommon and is often difficult to diagnose early. FDG-PET/CT may be a useful tool for the early diagnosis of IVLBCL.
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PMID:[Usefulness of FDG-PET/CT for the diagnosis of intravascular large B-cell lymphoma presenting with fever of unknown origin and renal dysfunction]. 1957 11

Deferiprone (L1) has been used in several countries for iron chelation therapy for over one decade. Long-term results on the drug are lacking. In the present study, data of 110 patients on deferiprone (L1) for up to 17 years were analyzed. On a mean L1 dose of 70.2 mg/kg/day (range 44-100), serum ferritin level showed a very steady decrease with time from an initial mean (+/-SD) of 3,033.61 +/- 1,468.04 ng/ml to final of 1,665.08 +/- 949.93 ng/ml after a mean (+/-SD) of 6.1 +/- 3.8 years. In total, 13 patients discontinued L1 therapy. Major complications of L1 requiring permanent discontinuation of treatment included arthropathy (n = 8, 7.2%) and neutropenia/agranulocytosis (n = 5, 4.5%). Lesser complications permitting continued L1 treatment included transient mild leucopenia or thrombocytopenia (n = 3) and gastrointestinal problems (n = 5). There were a total of three deaths attributed to agranulocytosis. Although the complications associated with L1 treatment are significant and require close monitoring, they do not preclude effective long-term therapy in the vast majority of patients. A longer duration of therapy is required for effective response in chronically iron-overloaded patients. Further well-controlled prospective studies of L1 are required to identify factors affecting individual response to therapy.
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PMID:Long-term response to deferiprone therapy in Asian Indians. 1965 43

Gaucher disease (GD) is a lysosomal storage disorder characterized by anemia and thrombocytopenia, hepatosplenomegaly, and skeletal involvement. The management of Gaucher disease was improved by the development of enzyme replacement therapy (ERT). However, the bone response to ERT is generally slower compared to other clinical manifestations. Some have recommended the early use of ERT to prevent the development of severe skeletal complications. Because we have access to over 30 untreated patients in Ontario, we questioned the extent to which complications progress in severity over a long period of time. We examined retrospectively the natural history of GD and the extent of skeletal manifestations in 22 untreated type 1 GD adult patients (mean age, 49+/-3.3; range, 20-81 years). The patients were followed for a median of 9.5 years (range, 3-16 years). Hemoglobin (Hb) concentration did not significantly change over time (mean baseline concentration of 12.8+/-0.27 g/dL vs. mean recent concentration of 12.6+/-0.37 g/dL, p=0.65). Mean platelet count also remained relatively stable over time (mean baseline count of 138+/-13x10(9)/L vs. mean recent count of 138.5+/-18x10(9)/L, p=0.98). Mean ferritin and ACE concentrations were elevated and were stable over time. Liver volumes decreased over time (mean baseline liver volume of 1.2xnormal (N) vs. mean recent volume of 1.06xN, p=0.27) and 6 of 22 (27%) patients had moderate hepatomegaly (liver volume, 1.25-2.5xN). Spleen volumes remained stable over time (mean baseline spleen volume of 6.6xN vs. mean recent volume of 5.2xN, p=0.5). None of the changes was statistically significant. Four of 20 (20%) patients had moderate splenomegaly (spleen volume, 5-15xN), 2 of 20 (10%) had marked splenomegaly (spleen volume, >or=15xN), and 2 of 22 (9%) had had splenectomy. The most common skeletal manifestations were infiltration of the bone marrow in 16 of 22 (73%) patients followed by osteopenia in 15 of 22 (68%), Erlenmeyer flask deformity in 13 of 22 (59%), and infarctions in 6 of 22 (27%) patients. We observed that bone disease remained relatively stable over time in most patients, although three patients developed new infarcts over time, one developed an avascular necrosis (AVN), and four had an increase in the degree of osteopenia. Although GD and its skeletal complications progress in severity in some patients, our results suggest that GD complications, including bony disease, may stabilize over time. Therefore, early use of ERT may not be necessary in all type 1 GD patients.
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PMID:The clinical course of untreated Gaucher disease in 22 patients over 10 years: hematological and skeletal manifestations. 1979 65


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