Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical studies have long suggested the presence of a specific cardiomyopathy in sickle cell anemia secondary to intracoronary thrombosis and subsequent infarction. Fifty-two autopsy patients were studied (48 with SS hemoglobin, 4 with S-C or S-Thal hemoglobin) to ascertain the range of cardiac pathologic abnormalities associated with this disease. The average age was 17 years (range 1 month to 48 years). Renal failure and infection were the most common causes of death; the former was a more common cause in adults than in children. Right and left ventricular hypertrophy and dilatation were the most common abnormal pathologic findings. No evidence of recent or remote myocardial infarction, coronary thrombosis or arteritis was noted in any patient. Eight patients who were studied with postmortem coronary arteriograms exhibited markedly increased coronary arterial caliber with no evidence of atherosclerosis. Seventeen of the 52 patients studied had clinical evidence of congestive heart failure before death. Of these 17 patients, 7 had moderate to severe left ventricular hypertrophy associated with chronic renal failure and hypertension, 2 had right ventricular hypertrophy with organized pulmonary thrombosis, 2 had rheumatic mitral valve disease and 2 died during the second trimester of pregnancy. Two of the 17 patients thought to have pulmonary edema before death in fact had aspiration pneumonia and hemorrhagic pneumonitis, respectively. The data suggest that cardiac dysfunction in sickle cell anemia can usually be explained by the adverse effect of coexisting disease on the diminished cardiac reserve of chronic anemia. The data do not support the concept of a specific "sickle cell cardiomyopathy".
 ...
PMID:Clinicopathologic analysis of cardiac dysfunction in 52 patients with sickle cell anemia. 15 Jul 86

A 34 year old woman with sickle cell (SS) anemia and chronic renal failure of unknown etiology was maintained on dialysis for 11 months before she received a cadaveric renal transplant. After 24 months, transplant function is excellent although a mild urinary concentrating defect (Umax = 532 mOsm/liter) is present. Renal biopsies five and 11 months after transplant revealed mild focal interstitial infiltrates and mesangial thickening. A major complication has been the reemergence of numerous severe painful crises, inferred to be caused by an increased blood viscosity consequent to a rising hematocrit value, after a hiatus of many years. The succession of crises was stopped with a prophylactic partial exchange transfusion program, reemerged when the program was discontinued, and was stopped again when the transfusion program was reinstituted. We conclude that renal transplantation may be successfully performed in patients with sickle cell disease. Complications of the hemoglobinopathy may develop, but painful crises can be successfully managed with judicious transfusion therapy.
 ...
PMID:Painful crises following renal transplantation in sickle cell anemia. 34 34

We have encountered two cases of late calcification of the porcine heterograft. A patient in chronic renal failure died of sepsis and endocarditis fifteen months after replacement of the mitral and tricuspid valves. At postmortem examination, both heterograft valves exhibited severe calcification and thrombosis. A second patient with rheumatic heart disease and sickle cell disease underwent mitral valve replacement for severe regurgitation. Thirty months later, cardiac catheterization revealed prosthetic valve stenosis. The valve was replaced successfully, and the excised heterograft exhibited severe calcification with restriction of leaflet motion. Although calcification of the porcine heterograft is known to occur in patients with infection or disorders of calcium metabolism, dysfunction of the heterograft is rare in our experience.
 ...
PMID:Calcific stenosis of the porcine heterograft. 45 40

Individuals with sickle cell anemia manifest various functional and anatomic renal aberrations. Function of the renal medulla is uniformly affected as reflected in impaired urinary concentrating and acidifying ability. Disruption of normal blood flow patterns in the medulla with impairment of function of the loop of Henle (functional papillectomy), presumably because of sickling in the hyperosmolar and anoxic environment of the renal medulla, may mediate these abnormalities. Hematuria and frank papillary necrosis may result through the same mechanism. Nephrotic syndrome, glomerulonephritis, and progressive renal failure occur on occasion in sickle cell disease. Recent evidence strongly suggests an immune complex glomerulonephritis due to tubular injury with release of renal tubular antigen into the circulation of such individuals. Hemodialysis and renal transplantation appear to be reasonable modes of therapy for sickle cell patients in chronic renal failure.
 ...
PMID:Sickle hemoglobinopathy and the kidney. 89 Dec 1

Between 1981 and 1990, the American Red Cross Rare Donor Registry supplied 9,872 units of red cell components with rare phenotypes to blood centers in the United States and abroad. Approximately 51% were from donors with high-frequency antigen-negative phenotypes and 49% were from donors with multiple antigen-negative phenotypes. Since 1989, the disease category requiring the largest number of units has been sickle cell disease. Strategies to ensure that the Registry will have adequate resources to meet future requirements include testing selected donors for rare phenotypes and blood conservation programs, such as intraoperative salvage and the treatment of anemia of chronic renal failure with recombinant erythropoietin.
 ...
PMID:A decade of rare donor services in the United States. Report of the American Red Cross Rare Donor Registry (1981-1990). 144 63

Recombinant human erythropoietin represents a potential therapeutic alternative to red blood cell transfusions in a number of pediatric anemias. It is effective in correcting anemia associated with chronic renal failure and may significantly reduce the morbidity associated with childhood CRF. Most exposures to allogeneic blood products in pediatrics for treatment of anemia with blood transfusions occur in neonatal intensive care units. If proven effective in treating anemia in premature babies, r-HuEPO will be responsible for a major reduction in the use of blood transfusions in clinical neonatology. Carefully designed, placebo-controlled clinical trials will be required to establish the role of r-HuEPO in anemia of prematurity. Recombinant human erythropoietin also may be useful to increase the amount of blood that can be collected before elective surgical procedures. Another potential indication is to raise the hematocrits of infants with large intracardiac shunts who develop congestive heart failure coincident with the developmental fall in hemoglobin concentration after birth. Finally, r-HuEPO may one day play a role in modifying the expression of globin genes and, thereby, ameliorate the course of sickle cell disease and beta thalassemia. Many questions surrounding the use of r-HuEPO in infancy and childhood are being addressed in ongoing clinical trials.
 ...
PMID:Recombinant erythropoietin in pediatrics: a clinical perspective. 218 91

Filtration of red blood cells through agarose gels (Sephadex, Sepharose, and Superose) was used to assess red cell deformability and simultaneously obtain fractions of red cells with different properties. The hemoglobin concentration in each fraction was used to define a filtration profile of red cells. It was found that gel filtration was a reproducible process. A gel filtration index (GFI) was derived from the height and the width of the filtration curve at half the maximum height. Osmotically treated red cells, red cells partially hardened with increasing glutaraldehyde concentrations, and mixtures of normal and hardened red cells were used to test the method. Changes in red cell deformability were sensitively detected by the GFI. The first fractions eluted from the column contained red cells with normal deformability, whereas the later fractions contained primarily less deformable cells with an increased membrane elastic modulus. By repeated filtration of late fractions it was possible to enrich the suspensions with less deformable cells. Patients with chronic renal failure had a decreased filterability; their GFI was 1.04 +/- 0.27 (n = 15) compared with 1.18 +/- 0.17 in controls (n = 20, p less than 0.05). We conclude that gel filtration is useful to detect and isolate abnormal red cell subpopulations. It could be a valuable tool for the investigation of disorders such as sickle cell anemia.
 ...
PMID:Gel filtration: a new method to analyze and separate red blood cells with different deformabilities. 240 51

The chemistry, pharmacology, pharmacokinetics, clinical uses and efficacy, adverse effects, drug interactions, dosage and administration, and formulary considerations of epoetin are described. Erythropoietin, a glycoprotein hormone primarily synthesized in the kidney, is the chief regulator of red blood cell production. Erythropoietin concentrations increase in response to a hypoxic state, resulting in increased red blood cell formation, accelerated hemoglobin production, and premature movement of reticulocytes into the circulation. The human gene responsible for the production of erythropoietin recently was cloned, and the recombinant product--epoetin--has been made available through mass production. The apparent volume of distribution of i.v. epoetin approximates the assumed plasma volume both in healthy volunteers and in patients with chronic renal failure. Little is known about the metabolism and route of elimination of epoetin and erythropoietin. Epoetin recently was approved by the FDA for treatment of anemia associated with chronic renal failure. Clinical trials in patients receiving hemodialysis or peritoneal dialysis and in predialysis patients with renal dysfunction demonstrate epoetin's efficacy. Other potential indications include augmentation of blood production in patients enrolled in autologous blood donation programs and treatment of anemias associated with rheumatoid arthritis, sickle cell disease, acquired immunodeficiency syndrome, cancer, and premature birth. The most frequent adverse effect associated with epoetin therapy is the worsening or development of hypertension. Other adverse effects include thrombocytosis, hyperkalemia, rise in serum urea concentration, iron deficiency, and flu-like symptoms. No drug interactions with epoetin have been reported in humans. The recommended starting epoetin dosage in patients with chronic renal failure is 50-100 IU/kg three times weekly. Epoetin is available only as an injection for i.v. or s.c. administration. Epoetin provides a new therapeutic approach to the treatment of anemia associated with chronic renal failure in hemodialysis, peritoneal dialysis, and predialysis patients. Benefits of epoetin therapy include reduced need for blood transfusions, the amelioration of anemic symptoms, and an improved quality of life.
 ...
PMID:Epoetin: human recombinant erythropoietin. 268 Feb 41

Classification of platelet disorders has been based on the platelet count. Addition of a second variable, mean platelet volume (MPV), to the routine blood count allows classification of patients into 9 categories: high, low, or normal MPV, and high, low or normal platelet count. We studied 1,244 adult inpatients. 1,134 had both platelet values normal. 11 patients had high MPV and low platelet count: all had hyperdestructive causes. 15 patients had high MPV and normal platelet count: 12 had heterozygous thalassemia, and three had iron deficiency. Seven patients had high MPV and high platelet count: causes included myeloproliferative disorders, inflammation, iron deficiency, and splenectomy, 25 patients had high platelet counts and normal MPV: the causes were inflammation, infection, sickle cell anemia, iron deficiency, or chronic myelogenous leukemia. 52 patients had an MPV that was inappropriately low for the platelet count (high, normal, or low). All had sepsis, splenomegaly, aplastic anemia, chronic renal failure, or a disease being treated with myelosuppressive drugs. High MPV thus appears correlated with myeloproliferative disease or thalassemia; and low MPV, with cytotoxic drugs or marrow hypoplasia. Addition of MPV to the platelet count allows subtler disorders to be detected (when the platelet count is normal), and allows distinction of the cause of thrombocytopenia.
 ...
PMID:Use of mean platelet volume improves detection of platelet disorders. 407 87

A whole body bone scan obtained on a 21-year-old woman with sickle cell disease and chronic renal failure showed localization of the radionuclide diffusely in the stomach. The localization of the radionuclide represented metastatic calcification of the stomach caused by secondary hyperparathyroidism.
 ...
PMID:Metastatic calcification of the stomach imaged on a bone scan. 623 23


1 2 3 4 Next >>