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

Three of five siblings developed a steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis within a four-month period. Two of the siblings with nephrotic syndrome (Patients 1 and 2) also have sickle cell anemia; the third (Patient 3) carries the thalassemia trait. The dizygotic twin brother of Patient 2 has sickle cell anemia, but does not have the nephrotic syndrome. The nephrotic syndrome of patient 1 was resistant to corticosteroid and cyclophosphamide therapy and she developed severe renal failure 14 months after onset. The nephrotic syndrome of Patients 2 and 3 was steroid resistant but was partially responsive to cyclophosphamide therapy. They have persistent proteinuria with mild elevation of serum creatinine concentration and hypertension 5 1/2 years after diagnosis. In this family, the nephrotic syndrome appeared unrelated to the specific hemoglobinopathy, HLA type or mixed lymphocyte culture responsiveness despite the similarity of the renal disease.
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PMID:Familial nephrotic syndrome and focal segmental glomerulosclerosis. 719 18

High-risk patients who should receive the pneumococcal vaccine include asplenic patients, those with sickle cell anemia, nephrotic syndrome, congestive heart failure, pulmonary or renal disease, insulin-dependent diabetics, alcoholics with cirrhosis and immunocompromised patients. The vaccine should not be used in children under two years of age. It is safe, relatively inexpensive and effective when antibody response can be generated.
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PMID:Use of the pneumococcal vaccine. 729 14

Erythrocyte sickling on deoxygenation in vitro occurs in transgenic SAD mice, hemizygous for a modified human sickle hemoglobin, HbSAD [alpha 2 beta 2S(beta 6val)Antilles (beta 23 lle)D- Punjab (beta 121Gln)] (SAD-1, 19% HbSAD; beta-thal/SAD-1, 26% HbSAD). The present study examines the cellular defects in vivo and pathologic changes observed in SAD-1 mice at atmospheric oxygenation as well as the effect of acute hypoxia. The transgenic mice showed generalized congestion and microvascular occlusions, occasionally with thrombosis and infarctions of lung, kidneys, penis, and myocardium. The most prevalent chronic organ lesions were congestive splenomegaly (83% of animals) and renal glomerulopathy, which affected 75% of animals by 10 months of age. Further, SAD mice have a mean lifespan that was reduced by 40% when compared with nontransgenic littermates. Premature death of SAD mice was associated with acute vasoocclusive events or severe renal disease. SAD mice developed lethal vasoocclusive processes when exposed to reduced pO2 conditions, whereas control mice survived normally. The sensitivity to hypoxia appears to depend on the cellular level of HbSAD, because death occurred at pO2 of 42 mmHg for SAD mice and 49 mmHg for beta-thal/SAD. Administration of an antisickling agent that increases oxygen affinity (BW12C79) protected SAD and beta-thal/SAD mice from the lethal hypoxic stress. In conclusion, the transgenic SAD and beta-thal/SAD mice developed a pathophysiology that strongly resembles human sickle cell disease. Moreover, this animal model allows studies on the effect of antisickling agents.
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PMID:Sickle cell disease of transgenic SAD mice. 794 91

Patients with sickle cell disease appear to have a high incidence of cerebral aneurysm. These aneurysms are not associated with the usual risk factors of hypertension, renal disease, or connective tissue disease. We present two recent cases of patients with sickle cell disease and multiple cerebral aneurysms, review the literature on the association between sickle cell disease and cerebral aneurysms, and discuss a mechanism by which sickle cell disease may lead to the formation of cerebral aneurysms.
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PMID:Multiple cerebral aneurysms in patients with sickle cell disease. 846 34

In a national longitudinal-cohort study of 59,462 end-stage renal disease (ESRD) patients, we examined dosing and effectiveness of erythropoietin (EPO) during the first year of its use in clinical practice (July 1989 through June 1990). In unadjusted and multivariate analyses of Medicare claims data, the mean dose of EPO prescribed was: relatively small and similar for initial and maintenance therapy, 2752 (95% confidence interval 2740 to 2764) and 2668 (95% confidence interval 2654 to 2682) units, respectively; lower when initial therapy was started later (591 units lower in September 1989 and 760 units lower in November 1989 vs. July 1989, P < 0.0001); lower by 135 units during initial therapy and by 116 units during maintenance therapy for females (who weigh less) compared to males (P < 0.001); and lower by 400 units for patients treated in for-profit versus not-for-profit centers. In multivariate analysis: hematocrit response was less and mean maintenance dose was 298 units and 621 units greater for patients whose ESRD was due to multiple myeloma and sickle cell disease, respectively, compared to those with hypertension-related ESRD (P < 0.01); and hematocrit response was logarithmically related to dose [hematocrit = 0.97 ln (dose), P < 0.0001]. Forty-four percent of patients had a hematocrit > or = 30 after four months of therapy. The percent of patients transfused during three month periods before and after therapy decreased from 20% to 5%, respectively (P < 0.0001).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Early dosing practices and effectiveness of recombinant human erythropoietin. 851 Mar 92

This study evaluates the MR appearance of the kidney in diffuse renal parenchymal diseases, using precontrast, and immediate and delayed postgadolinium chelate (Gd), spoiled gradient echo (SGE), and pre- and post-Gd, T1-weighted, fat-suppressed spin-echo MR images to determine if characteristic findings exist for various types of renal disease. One hundred twenty-one patients with renal disease underwent MRI. Underlying diagnoses included: (a) glomerular disease (GD), (b) tubulointerstitial disease (TID), (c) microvascular disease (MVD), (d) ischemic nephropathy (INP), (e) obstructive nephropathy (ON), (f) infectious renal disease (IRD), (g) sickle cell disease (SCD), (h) renal cortical necrosis (CN), and (i) renal insufficiency of unknown etiology (UE). MR examinations of 22 patients with normal kidneys (NK) were evaluated as a control group. The presence of corticomedullary differentiation (CMD) demonstrated strong inverse correlation with serum creatinine concentration (SCr) (r = -.568, P < .001). Mean thickness of the renal cortex was 8.4 and 7.8 mm in patients with NK and Gd, respectively. The mean cortical thickness in patients with MVD, TID/Chemo, INP, and ON was 5.2, 5.6, 5.5, and 4.3 mm, respectively, significantly thinner than the renal cortex in the NK and GD groups (P < .01). Irregularity of the renal cortex was more frequent in MVD (60.9%), IRD (62.5%), ON (55.6%), and TID/other (53.8%) than in GD (3.8%) and NK (0%) (P < .01). Diffuse high SI of the entire medulla on delayed postcontrast images was observed in 25 (20.7%) of the patients with renal disease and none of the NK group. Although no pathognomonic features were found, certain findings were observed that may correlate with the etiology of the kidney disease and, therefore, assist in the differential diagnosis of renal parenchymal disease.
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PMID:MR findings in diffuse renal parenchymal disease. 885 18

Sickle cell disease is a rare cause of end-stage renal disease (ES-RD) in pediatrics accounting for only 0.5% and 0.2% of the patients registered in the dialysis and transplant arms of the NAPRTCS database, respectively. Accordingly, the single-center experience with this disorder is extremely rare, and little information on patient and graft outcome is available. Between 1989-1995, 9 patients with sickle cell nephropathy (5 male and 4 female) received 10 transplants [7 cadaver (CAD) and 3 living-related donor (LRD)]. The mean age at the time of the first transplant was 16.0 +/- 1.6 years. Prior to transplantation, all patients received maintenance dialysis (4 HD, 4 PD, 1 HD/PD) for 21.4 +/- 16.1 months (range 3-47 months), and all had received > 5 lifetime random blood transfusions. There was a mean 15.9 consecutive days of hospitalization from transplantation to discharge. Initial immunosuppression consisted of methyl predinsolone/prednisone (9 patients) cyclosporine (7 patients) and azathioprine (8 patients). ATG/ALG or OKT3 were used in 3 CAD transplants. There have been 21 acute rejection episodes in 7 of the 9 patients. Two patients had no rejections and 2 patients had 6 rejections each. Six of the 21 rejection episodes occurred within the first 100 days post-transplant. Nine (43%) of the rejections were completely reversed, the reversal rate varying from 71% for first rejections to 29% for second and subsequent rejections. Four (40%) of the 10 grafts have failed. Graft survival at 12 and 24 months post-transplant is 0.89 +/- 0.11 and 0.71 +/- 0.18, respectively. Patient survival is 89%. The present experience suggests that renal transplantation is a viable option for the adolescent patient with sickle cell nephropathy and ESRD.
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PMID:Renal transplantation in children with sickle cell disease: a report of the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS). 1008 44

Hemoglobin S/O(Arab) (Hb S/O(Arab)) is a rare compound heterozygous hemoglobinopathy characterized by the presence of two variant beta-globin chains: beta6Glu --> Val (Hb S) and beta121Glu --> Lys (Hb O(Arab)). The diagnosis of Hb S/O(Arab) requires electrophoresis on both cellulose acetate and citrate agar, since Hb O(Arab) co-migrates with Hb C at alkaline pH and close to Hb S at acidic pH. To date only case reports and small series of patients with Hb S/O(Arab) have been described. To better characterize the clinical and laboratory aspects of this unusual disorder, we reviewed the Duke University Medical Center experience. We identified 13 African-American children and adults with Hb S/O(Arab) ranging in age from 2.7 to 62.5 years. All patients had hemolytic anemia with a median Hb of 8.7 gm/dL (range 6.1-9.9 gm/dL), and a median reticulocyte count of 5.8% (range 1.2-10.3%). The peripheral blood smear typically showed sickled erythrocytes, target cells, polychromasia, and nucleated red blood cells. All 13 patients have had significant clinical sickling events including acute chest syndrome (11), recurrent vasoocclusive painful events (10), dactylitis (7), gallstones (5), nephropathy (4), aplastic crises (2), avascular necrosis (2), leg ulcers (2), cerebrovascular accident (CVA) (1), osteomyelitis (1), and retinopathy (1). Four patients have died, including two from pneumococcal sepsis/meningitis at ages 5 and 10 years, one of acute chest syndrome at age 14 years, and one of multiorgan failure at age 35 years. We conclude that Hb S/O(Arab) disease is a severe sickling hemoglobinopathy with laboratory and clinical manifestations similar to those of homozygous sickle cell anemia.
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PMID:Hemoglobin S/O(Arab): thirteen new cases and review of the literature. 1020 1

Renal abnormalities in sickle cell disease. Sickle cell nephropathy is indicated by sickled erythrocytes, with the consequent effects of decreased medullary blood flow, ischemia, microinfarct and papillary necrosis. Impaired urinary concentrating ability, renal acidification, hematuria, and potassium secretion are also found. There may be a causal relationship between an increase in nitric oxide synthesis and experimental sickle cell nephropathy, and some studies have indicated that the progression of sickle cell nephropathy is hemodynamically mediated. Although there are many studies showing that proteinuria, nephrotic syndrome, chronic progressive renal failure, and acute renal failure syndromes are the outcome of this disease, the pathogenic mechanism(s) and potential therapies remain to be elucidated. Survival of patients with sickle cell nephropathy who progress to end-stage renal disease (ESRD) is equal to non-diabetic ESRD patients, and graft survival rates are also similar for those who undergo renal transplantation. This article presents a historical review of the glomerular and tubular disorders associated with sickle cell nephropathy, and reviews therapeutic indications to slow its progression. Further research is needed.
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PMID:Renal abnormalities in sickle cell disease. 1088 98

Children with chronic illness live with the specific consequences of their illness, as well as secondary endocrine abnormalities that further compromise growth and pubertal development. These secondary abnormalities may significantly add to their physiologic and psychological burden. Although these endocrine abnormalities theoretically arise as adaptations to the chronic illness, they may have deleterious effects if they persist untreated. Children with HIV infection and other wasting disorders, for example, show growth suppression out of proportion to the severity of their primary illness as a result of growth hormone resistance and enhanced cortisol secretion. In hematologic conditions such as sickle cell anemia, thalassemia, or bone marrow transplant, damage to the hypothalamus and/or pituitary may lead to growth hormone deficiency, gonadal insufficiency, and hypothyroidism. Growth and pubertal delay are also common among children with cystic fibrosis, along with insulin-dependent diabetes mellitus caused by pancreatic fibrosis. Similarly, children receiving long-term steroid therapy have delays in growth and pubertal development, accompanied by risk for osteoporosis, whereas chronic renal disease is associated with growth and pubertal delay, as well as secondary hyperparathyroidism. Recognition of potential endocrinopathies in children with chronic illness is an important aspect of the care of these children because the disturbances are frequently amenable to treatment, permitting full or partial restoration of normal growth and development in these children. In this chapter, the endocrine consequences of common chronic conditions of childhood are reviewed, as well as the etiology of the endocrine disturbance, the clinical consequences, and recommendations for treatment.
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PMID:Advances in the recognition and treatment of endocrine complications in children with chronic illness. 1064 63


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