Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.7.6 (RNA polymerase)
 34,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute renal failure in association with microangiopathic hemolytic anemia and the pathological finding of thrombotic microangiopathy may occur in a number of conditions including hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, and systemic sclerosis. Distinguishing between these conditions on clinical grounds may be difficult, and further investigations, including serological tests, are normally helpful. We present a patient who was treated with 5 doses of monthly carboplatin chemotherapy for stage IIb ovarian carcinoma and who subsequently developed acute renal failure and microangiopathic hemolysis together with some cutaneous features of systemic sclerosis. Initial serological tests, including anti-nuclear antibody titers measured using rat hepatocytes, were normal, and renal biopsy showed features of microangiopathic hemolysis, fibrinoid change, patchy tubular atrophy, and concentric intimal proliferation. A clinical diagnosis of diarrhea-negative hemolytic uremic syndrome was made and she was treated with plasma exchange and fresh frozen plasma infusion. However, she remained dialysis-dependent. Several weeks later she died following a cardiac arrest. Post-mortem examination revealed medial hypertrophy, concentric intimal proliferation, and thrombi within the small arteries of the kidneys and lungs. Subsequent results from tests taken at the time of her presentation with acute renal failure revealed a normal von Willebrand factor qualitative distribution, and a positive anti-nuclear antibody titer (using a human cell line) in association with positive autoantibodies to RNA polymerase types I, II, and III. Taken together, the clinical, laboratory, and post-mortem findings were suggestive of a diagnosis of systemic sclerosis. We discuss the differential diagnoses, and the associations between these and malignancy and chemotherapy. Finally, we consider the serological tests used for the diagnosis of systemic sclerosis that were, in this case, initially misleading.
 ...
PMID:Renal failure due to scleroderma with thrombotic microangiopathy developing in a woman treated with carboplatin for ovarian cancer. 1242 90

In order to identify the feature of T cells immune status in idiopathic/immune thrombocytopenic purpura (ITP) patients, TCR Vbeta repertoire, T-cell receptor (TCR) excision DNA circles (TRECs) and TCRzeta chain gene expression were examined. Reverse-transcriptase polymerase chain reaction, genescan and real-time PCR techniques were used to analyze. DNA and cDNA from peripheral blood mononuclear cells (PBMCs) of 18 ITP patients were investigated and 25 normal individuals served as control. The results showed that only 4-11 Vbeta subfamilies could be detected in each ITP case. The most frequently expressed Vbeta subfamilies were Vbeta2 and Vbeta3, while 11 Vbeta subfamilies were absent. Clonal expansion of Vbeta T cells were found in all patients. The most frequent clonal expansion T cell was Vbeta21. The number of TRECs in ITP patients (2.60 +/- 2.99 copies/1000 PBMCs) was not significant different, compared with control (3.76 +/- 3.42 copies/1000 PBMCs). The expression level of TCRzeta gene was significantly lower in ITP samples than those in control (P = 0.017). In summary, T cells in ITP patients were characterized by restricted expression of TCR Vbeta subfamilies and clonal expansion predominant in Vbeta21. The alteration of peripheral TCR Vbeta repertoire pattern may not relate to the thymic, recent output function in ITP patients. Our report is the first description of decreased TCRzeta mRNA level in the majority of ITP patients.
 ...
PMID:The feature of clonal expansion of TCR Vbeta repertoire, thymic recent output function and TCRzeta chain expression in patients with immune thrombocytopenic purpura. 1869 42

Scleroderma renal crisis (SRC) occurs in approximately 10% of patients with systemic sclerosis (SSc), particularly in those with diffuse skin disease. Scleroderma renal crisis has rarely been described to occur in patients with SSc without skin involvement. Scleroderma renal crisis without skin disease represents a major diagnostic challenge, particularly in patients without overt SSc involvement of other organ systems. It closely mimics the presentation of thrombotic thrombocytopenic purpura/hemolytic uremic syndrome, and treatment is therefore often directed at this entity. Anti-RNA polymerase III antibody testing has been previously reported to be used in 4 patients to diagnose SRC in the absence of sclerotic skin disease.We report 2 patients without skin disease or overt visceral involvement at presentation who presented with microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Both patients eventually developed diffuse and rapidly progressive skin thickening. Anti-RNA polymerase III antibodies were strongly positive, supporting that their renal presentations were secondary to SRC.
...
PMID:Anti-RNA polymerase III antibodies in the diagnosis of scleroderma renal crisis in the absence of skin disease. 2527 66