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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A variety of renal structural and functional abnormalities have been associated with sickle cell disease. To define the relationship between the hemoglobinopathy and glomerular disease, clinicopathologic correlations, renal morphologic, ultrastructural immunohistologic and functional studies were performed on seven patients with clinical and laboratory evidence of glomerular disease. In addition, immunologic studies including isolation and characterization of cryoprecipitable immune complexes, and determination of immunoglobulin, total complement and complement component levels, and antibody titers to several antigens were performed in an attempt to define the etiologic and pathogenic mechanisms of the renal disease and its relationship to sickle cell anemia. Proteinuria was presnet in all patients. The nephrotic syndrome, hypertension, hematuria and renal insufficiency were found in more than one half the patients. All patients had membranoproliferative glomerulonephritis of varying degree; glomerular basement membrane splitting, electron dense deposits in the glomerulus; interstitial fibrosis, tubular atrophy and hemosiderin deposits were frequent. Immunoglobulin complement components (classif complement pathway) and renal tubular epithelial antigen were distributed in a granular pattern along the glomerular basement membranes of all patients studied by these methods. Cyroprecipitable complexes of renal tubular epithelial antigen-antibody to renal tubular epithelial antigen as well as antibody to renal epithelial antigen were detected in the circulation of some patients. There was no serologic evidence of activation of the alternate complement pathway. These studies demonstrated an immune deposit normocomplementemic nephritis associated with sickle cell anemia; they further support our hypothesis that the relationship is more then coincidental, and is mediated by glomerular deposition of immune complexes of renal tubular epithelial antigen-antibody to renal tubular epithelial antigen, the antigen possibly released after tubular damage secondary to oxygenation and hemodynamic alterations related to sickle cell disease.
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PMID:Nephropathy associated with sickle cell anemia: an autologous immune complex nephritis. II. Clinicopathologic study of seven patients. 12 92

This review of 65 black-black patients with gout, in contrast to tan or tinted, is presented to emphasize the universal nature of the disease, irrespective of race or geographic region. One case of a female who delivered a living child 4 yr after her initial attack of gout is reported. No case of gout secondary to chronic renal disease, or to a blood dyscrasia, including sickle cell disease, was discovered. Except for the race, aberrant sex distribution and low incidence of urate stones, this series is not unlike a series of white gout patients.
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PMID:Gouty arthritis in the black race. 112 98

New insights into the physical chemistry and molecular epidemiology of sickle cell anemia have improved our understanding of the pathophysiology of the associated nephropathy, the predictors of this complication, and genetic and other factors that may modify it. In this article, we analyze the current clinicopathologic knowledge with reference to the predilection to nephropathy and the protection from hypertension, as well as the altered renal physiology of the sickle cell state that underlies both these phenomena. In the early stages of sickle cell anemia, the kidney is characterized by impaired function of the renal medulla, as evidenced by reduced capacity to concentrate, acidify, and excrete potassium into the urine. Meanwhile, the cortex functions supranormally, as evidenced by increased renal plasma flow and glomerular filtration rate, proximal tubular function, and urinary diluting capacity. In addition to the complications of hematuria and papillary necrosis, renal insufficiency supervenes in a subgroup of patients. The morphology of the glomerulopathy generally differs between children and adults; in the latter group there is a particularly poor prognosis and markedly shortened life expectancy. Renal replacement therapy has nonetheless been successful. Although hypertension may be found at this stage, it is extremely rare before the onset of significant renal impairment. The possible mechanism of this protection is discussed, with a focus on the compelling need for further investigation in light of the newly gained basic understanding of this hematorenal syndrome.
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PMID:The kidney in sickle cell anemia. 157 59

Sickle cell disease is known to cause glomerulopathy, including focal segmental glomerulosclerosis (FSGS). Patients who have sickle cell glomerulopathy with FSGS are thought to have a poorer prognosis than patients who have sickle cell glomerulopathy without this lesion. The former patients are more likely to have persistent proteinuria and eventually develop end-stage renal disease. We present a boy with sickle cell glomerulopathy and FSGS who is younger than patients with similar findings reported previously. The histopathology of his renal lesions is remarkable for segmental ultrastructural changes in the glomerular basement membranes and endothelial cells. We speculate that these changes are precursory to the pathogenesis of glomerular sclerosis in patients with sickle cell disease.
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PMID:Sickle cell glomerulopathy with focal segmental glomerulosclerosis. 177 2

There is wide variation in the clinical manifestations of sickle cell disease (SCD) from one affected individual to another. Many investigators have sought to discern parameters that would explain this variability. In the present studies we have attempted to correlate the frequency of painful events and the extent of end organ failure in SCD with rheologic properties of packed suspensions of sickle cells, using a magneto-acoustic ball microrheometer developed in our laboratory. Using this device we have measured the steady-state viscosity, and the viscous and elastic moduli of cell suspensions in 16 individuals with hemoglobin SS disease who were untransfused and in their steady state. The rheologic parameters were then correlated with clinical parameters. The clinical parameters measured were emergency department visits, hospitalizations, hemoglobin, reticulocyte count, age, and end organ failure (nephropathy, avascular necrosis of bone, stroke, retinopathy, resting hypoxemia after acute chest syndrome(s), leg ulcer, and priapism with impotence). The P value for the correlation between the steady state viscosity and end organ failure was .001 with a correlation coefficient (R value) of .73. The P value for the correlation between the viscous modulus of viscosity and end organ failure was .00006 with an R value of .83. The P value for the correlation between the elastic modulus of viscosity and end organ failure was .0006 with an R value of .76. However, there was no significant correlation between any component of packed cell rheology and emergency department visits or hospitalizations for pain.
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PMID:Relationship of clinical severity to packed cell rheology in sickle cell anemia. 182 65

Urinary tract abnormalities are detected as incidental findings in 15% of skeletal scintigraphic studies. Several scintigraphic patterns denote these abnormalities. Bilateral diffuse increased uptake is found in patients who have undergone chemotherapy and those with hyperparathyroidism, hypercalcemia, and sickle cell disease. Bilateral diffuse decreased uptake occurs in patients with end-stage renal disease, extensive metastatic disease to the bone, and various hematologic disorders. Focal increased activity is associated with postoperative changes and effects from radiation therapy. Focal decreased uptake is caused by space-occupying lesions such as abscesses, cysts, and neoplasms. Abnormal size, shape, and position associated with abnormalities of the kidney and bladder can also be seen. Although these scintigraphic patterns are seldom suggestive of a definitive diagnosis, they are highly specific for urinary tract disease.
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PMID:Incidental detection of urinary tract abnormalities with skeletal scintigraphy. 188 12

To study the potential of multivariate classification methods in order to obtain more insight into abnormal laboratory data from patients with sickle cell disease, we investigated standard haematological and clinical chemical variables of 18 controls and 37 apparently healthy persons with heterozygous sickle cell disease (Hb AS), all women, using both univariate and multivariate classification methods. In the univariate method, those with Hb AS showed decreased serum log aspartate aminotransferase (log AST) activity, mean corpuscular volume and mean corpuscular haemoglobin (MCH) and increased sodium concentration. The multivariate method identified sodium, potassium, urea, uric acid, log AST, alanine aminotransferase and MCH as the variables that produced maximal separation between persons with Hb As and controls. It increased the 'non-error rate' for classification of persons with Hb AS by 16.4% compared with classification based on the variable, MCH, that produced maximal separation by the univariate method. The frequency distribution of percentage Hb S in the Hb AS group proved bimodal with maximal separation at 37.0% Hb S. The subgroup with 37.0% or less (n = 16) was considered to have concomitant heterozygous alpha-thalassaemia-2. In the univariate method the subgroup characterized by greater than 37.0% Hb S (n = 21) had increased serum sodium and uric acid concentrations, perhaps related to sickle cell nephropathy, whereas the subgroup with less than or equal to 37% Hb S did not. The multivariate method added information to the univariate method by additionally identifying abnormalities in serum potassium and urea concentrations in the former subgroup.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Potential of descriptive linear discriminant analysis for studying clinical chemical and haematological data from persons with heterozygous sickle cell disease. 189 49

The importance of zinc for human health was first documented in 1963. During the past 25 y, deficiency of zinc in humans due to nutritional factors and several disease states has now been recognized. The high phytate content of cereal proteins is known to decrease the availability of zinc, thus the prevalence of zinc deficiency is likely to be high in a population consuming large quantities of cereal proteins. Alcoholism, malabsorption, sickle cell anemia, chronic renal disease, and chronically debilitating diseases are now known to be predisposing factors for zinc deficiency. A spectrum of clinical manifestations ranging from mild to severe degree have now been recognized in human zinc-deficiency states. Zinc is required for many biological functions including DNA synthesis, cell division, and gene expression. It is required for the activity of many enzymes in biological systems. Recent studies indicate that zinc is needed for cell-mediated immunity.
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PMID:Discovery of human zinc deficiency and studies in an experimental human model. 198 5

The haemostatic balance can basically be described as the equilibrium between fibrin formation (coagulation) and fibrin lysis (fibrinolysis). The status of this balance may therefore be reflected by the products of these two processes. Until recently, the tests for assessment of fibrin(ogen) degradation products were performed in serum since they were based on polyclonal antibodies, which cross-react with fibrinogen. However, the use of serum introduces many artefacts so the utility of these serum tests is limited. New assays have now become available, which can be divided into quantitative enzyme immunoassays (EIAs) and semi-quantitative latex agglutination assays. The new assays can be carried out in plasma since they use highly specific monoclonal antibodies, the majority of which do not cross-react with fibrinogen. This makes it possible to avoid the serum artefacts. Furthermore, these plasma assays can discriminate between degradation products of fibrin and those of fibrinogen (FbDPs and FgDPs, respectively). The possible clinical utility of the new assays is discussed on the basis of literature data on the following clinical states: deep venous thrombosis (DVT) and pulmonary embolism, liver disease and liver transplantation, sickle cell disease, renal diseases, pregnancy and preeclampsia, disseminated intravascular coagulation (DIC), malignancy, coronary artery disease and thrombolytic therapy. Fibrinolysis appears to be accompanied by fibrinogenolysis. Detection of fibrin(ogen) derivatives may be used to rule out DVT and to monitor efficacy of anticoagulant treatment for DVT or DIC, and reflects severity of renal disease but not renal function. High levels of FgDPs were found during orthotopic liver transplantation and thrombolytic therapy. Fibrin(ogen) degradation products cannot be used to predict reperfusion following thrombolytic therapy. The fibrinolytic system remained active during normal and complicated pregnancy and in patients with malignancies. The new assays provide valuable information on fibrin(ogen)olysis in several diseases. More information on the haemostatic balance may be obtained by using these new assays for fibrin(ogen)olysis products in combination with assays for coagulation products.
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PMID:Monoclonal antibody-based plasma assays for fibrin(ogen) and derivatives, and their clinical relevance. 210 91

The kidney is involved in virtually all individuals who inherit the sickle cell form of hemoglobin. Though asymptomatic and relatively common, proteinuria in patients with sickle cell anemia (SS) over 40 years old is associated with reduced creatinine clearance. The subclinical increase in urinary albumin is termed microalbuminuria and is a marker of preclinical glomerular damage. The aim of the present study was to determine the presence of microalbuminuria measured by radioimmunoassay in patients with sickle cell disease. The study included 41 patients with SS, 11 patients with hemoglobin SC disease, 4 subjects with S beta-thalassemia and 10 normal controls. All subjects were teenagers or adults. Sixteen SS patients (40%) and 1 SC (9%) and 1 S beta (25%) patient presented mean urinary albumin excretion (UAE) above normal values (30 mg/l. No correlation was observed between UAE and age, creatinine clearance, hemoglobin level or %HbF. These parameters, as well as the presence of leg ulcers, were not significantly different between SS patients with and without UAE above 30 mg/dl. The high prevalence of microalbuminuria in patients with sickle cell anemia indicates that glomerular damage is common. The connection between microalbuminuria and clinical nephropathy has been demonstrated in diabetes and may indicate a sign of early disease rather than a marker for susceptibility. Thus, microalbuminuria may be an early indicator of glomerular damage for patients with sickle cell disease.
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PMID:Microalbuminuria in sickle cell disease. 213 17


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