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)

Fifty-five children (34 boys, 21 girls; age range, 1 day to 18 years) with increased echogenicity of the renal medullary pyramids at ultrasound evaluation were identified. The clinical diagnoses associated with hyperechoic medullary pyramids could be separated based on the presence or absence of hypercalciuria. Patients with drug-induced hypercalciuria included 10 infants treated with furosemide, two treated with long-term steroid therapy, and one treated with excessive amounts of vitamin D. Other clinical conditions associated with hypercalciuria included renal tubular acidosis (n = 10), Bartter syndrome (n = 5), hyperparathyroidism (n = 3), Williams syndrome (n = 2) and medullary sponge kidney (n = 2). Ten children with transient renal insufficiency and three with sickle cell disease had normal urine calcium concentration. Isolated disease entities accounted for the remainder of cases. A specific diagnosis can usually be made in a patient with hyperechoic renal medullary pyramids by using a systematic clinical approach that includes evaluation of patient age, serum and urine calcium concentration, and renal function.
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PMID:Hyperechoic renal medullary pyramids in infants and children. 188 61

There are important interactions between disease and organic evolution, between disease and cultural evolution, and between all three. Social behaviour influences disease and is influenced by it. Disease and disease mortality are woven into the complex of behavioural and physiological reactions to the stresses of overpopulation, which act to reduce population size. These principles are illustrated with reference to a number of diseases, including vitamin D imbalance, phenylketonuria, lactose intolerance, malaria, sickle cell anaemia, favism, plague, yellow fever, syphilis, ergot poisoning, kuru, and the sweating sickness.
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PMID:Evolutionary and social aspects of disease. 668 92

Red blood cell (RBC) and polymorphonuclear white blood cell (WBC) calmodulin levels were measured in 25 uremic patients on regular hemodialysis. Uremic patients had significantly higher RBC [11.45 +/- 0.66 (+/-SE) fg/cell] and WBC (590.5 +/- 110 fg/cell) calmodulin levels than normal subjects (8.62 +/- 0.37 and 130 +/- 30 fg/cell; P less than 0.05). An extremely high RBC calmodulin level (20.58 fg/cell) was found in a patient with sickle cell anemia. Uremic patients on dialysis for 2 yr or more had lower RBC (10.99 +/- 0.58 fg/cell) and WBC (390 +/- 50 fg/cell) calmodulin levels than those who were on dialysis for less than 2 yr (RBC, 12.30 +/- 1.56 fg/cell; WBC, 943 +/- 256 fg/cell; P less than 0.05). There were no statistically significant differences in calmodulin levels when different subgroups of uremic patients were compared, e.g. patients with diabetes mellitus or those receiving supplemental vitamin D, anabolic steroids, or antihypertensive medications. We conclude that calmodulin levels are elevated in uremic patients on regular hemodialysis.
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PMID:The effects of chronic renal failure and hemodialysis on human red and white cell calmodulin levels. 672 5

The concentrations of serum calcium, parathyroid hormone (PTH), 25 Hydroxyvitamin D (25OHD), and 1,25 Dihydroxyvitamin D (1,25(OH)2D) were determined in 99 Saudi patients with sickle cell disease and in 104 matching healthy controls. Serum calcium and 25OHD were significantly lower in the patients, with 14% and 12% of them had serum calcium and 25OHD concentrations, respectively, below the normal range. PTH was significantly higher in the patients, with 31% having values above the normal range. There was no significant difference between patients and controls in regard to 1,25(OH)2D. There was a significant inverse correlation of 25OHD with PTH and a direct correlation of PTH with 1,25(OH)2D. Dietary intake of calcium and vitamin D was adequate in both patients and controls. The results indicate that sickle cell patients have hypocalcaemic tendency associated with supranormal PTH, and imply impaired intestinal absorption of calcium and vitamin D leading to a disturbed calcium metabolism which might contribute to the skeletal changes seen in sickle cell disease.
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PMID:Serum calcium, parathyroid hormone, and vitamin D status in children and young adults with sickle cell disease. 838 20

Differentiating agents, including butyrate, phenylacetate and several other agents, have long been known to alter abnormal or transformed cell lines in vitro to a more normal state including phenotype and function. The effect depends on prolonged exposure to a minimum concentration of the agent. In vivo studies of butyrate and analogues have been limited, largely due to rapid in vivo metabolism. A butyrate prodrug, the triglyceride tributyrin, shows great promise in achieving effective and prolonged serum levels when given orally to mice and rats, and has been recommended for human trial. In vitro, butyrate and its mono- and triglyceride have shown potent synergy with retinoic acid, suggesting a ten-fold reduction in serum level requirements. Other butyrate prodrugs have been prepared and studied; several sugar esters of butyrate show promise. Phenylacetate, a normal mammalian metabolite, is also a potent differentiating agent, but its clinical use is limited by its objectionable odor per se and in treated subjects. Phenylbutyrate, a prodrug of phenylacetate, is more acceptable and may have greater promise. The availability of effective prodrugs of effective differentiating agents, such as tributyrin and phenylbutyrate, creates many opportunities for possible therapeutic and chemopreventive applications, especially if synergy in vivo can be demonstrated with retinoids (e.g., retinoic acid) or deltanoids (e.g., active vitamin D analogues), confirming in vitro studies. Particular disease targets would include certain leukemias, thalassemia, and sickle cell anemia.
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PMID:Butyrate and phenylacetate as differentiating agents: practical problems and opportunities. 853 6

Bone disease with osteoporosis and osteomalacia are common in sickle cell disease (SCD). Some patients have vitamin D deficiency and low bone mineral density (BMD). The role of vitamin D and calcium supplementation to restore bone health in SCD has not been well studied. In 14 adults with SCD, we measured 25(OH)D (25-hydroxyvitamin D) and BMD at the femoral neck, lumbar spine, and distal third of the ulna plus radius, along with markers of bone resorption (CTx; C-terminal component of pro-collagen type I) and bone formation (osteocalcin) before and after 12 months of vitamin D(2) and calcium carbonate treatment. Pretreatment, all patients were vitamin D deficient with a mean 25(OH)D level of 11.6 [corrected] +/- 4 [corrected] ng/ml, had low BMD at the lumbar spine (L-spine), 0.87 +/- 0.11 g/cm(2) (mean Z-score of -2.6 3 +/- 0.71 SD and T score of -2.31 +/- 0.75 SD), femoral neck, 0.8 +/- 0.18 g/cm(2) (mean Z-score -1.36 +/- 0.84, T-score -1.14 +/- 0.75), and the distal radius and ulna, 0.6 +/- 0.17 g/cm(2) (mean Z-score -1.18 +/- 0.79, T-score -1.01 +/- 0.74) and had elevated CTx (0.87 +/- 0.5 ng/ml) and osteocalcin levels (12.3 +/- 3.7 ng/mul). After treatment, all patients corrected their 25(OH)D level (34.6 [corrected] +/- 11 [corrected] ng/ml) (P < 0.001) with a 3.6% +/- 3.9% increase in BMD at the L-spine (P = 0.009), 4.6% +/- 8.5% increase at the femoral neck (P = 0.05) and 6.5% +/- 12.6% increase at the distal radius plus ulna (P = 0.09). CTx, osteocalcin, and PTH(i) levels were unchanged. Treatment of adult SCD with vitamin D and calcium can restore 25(OH)D levels to normal and improve BMD, but, markers of bone resorption remained unchanged. Screening for vitamin D deficiency and BMD in SCD patients seems warranted.
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PMID:Sickle cell bone disease: response to vitamin D and calcium. 1792 48

Vitamin D is a particularly concerning nutrient for children with homozygous SS sickle cell disease (SCD-SS) due to their increased skin melanin concentrations, reduced levels of physical activity, and poor vitamin D intake. The goal of this study was to compare the vitamin D status of children with SCD-SS to healthy African-American children living in the same geographic area. Growth, dietary intake, serum 25-hydroxyvitamin D [25(OH)D], and intact parathyroid hormone (iPTH) concentrations were measured in 61 African-American subjects with SCD-SS and 89 healthy African-American control subjects age 5 to 18 years from the Philadelphia, PA, region (latitude 39.95 degrees N). Median serum 25(OH)D concentrations were 15 ng/mL (95% confidence interval [CI]: 13, 17) in subjects with SCD-SS and 21 ng/mL (95% CI: 18, 22) in healthy control subjects (P<0.0002). Vitamin D deficiency [25(OH)D<11 mg/mL] was found in 33% of subjects with SCD-SS and 9% of healthy control subjects (P<0.001); 25% of subjects with SCD-SS and 17% of healthy control subjects had elevated iPTH [(>59 rhog/mL), P<0.05]. Ninety-three percent of subjects with SCD-SS and 90% of healthy subjects had vitamin D insufficiency [25(OH)D<30 mg/mL]. The risk of vitamin D deficiency among subjects with SCD-SS was 5.3 (95% CI: 2.5, 8.2) times greater than control subjects, adjusted for season and age. Poor vitamin D status was prevalent in children with SCD-SS and healthy African-American children living in the same geographic area. However, children with SCD-SS were at greater risk for vitamin D deficiency than healthy African-American children.
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PMID:High risk of vitamin D deficiency in children with sickle cell disease. 1875 25

Vitamin D deficiency has been linked to fracture risk and chronic musculoskeletal pain. Adults with sickle cell disease have a high prevalence of low bone density and chronic pain with poorly defined etiologies. We recognized that vitamin D deficiency may represent a treatable etiology and sought to determine the prevalence of vitamin D deficiency in adults with sickle cell. We measured 25-hydroxy vitamin D levels in adults at 2 university-based sickle cell disease-management programs. Regression was performed in 142 patients to identify predictors of low vitamin D. Mean vitamin D levels were 9.0 ng/mL at Eastern Virginia Medical School and 12.8 ng/mL at University of Chicago; 139 of 142 (98%) had suboptimal levels (<30 ng/mL) and 85/142 (60%) were severely deficient (<10 ng/mL). Vitamin D level was not related to age, sex, hydroxyurea use, sickle cell type, or date of lab draw. Vitamin D deficiency was, therefore, nearly ubiquitous in our patient population, with a majority being severely deficient. Further studies are warranted to evaluate the effects of vitamin D repletion on clinical outcomes such as bone density, chronic musculoskeletal pain, and functional status. Clinicians caring for patients with sickle cell disease should be aware of and screen for this important clinical state.
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PMID:Prevalence of vitamin D deficiency in adults with sickle cell disease. 2043 40

Objective. To review issues related to asthma in sickle cell disease and management strategies. Data Source. A systematic review of pertinent original research publications, reviews, and editorials was undertaken using MEDLlNE, the Cochrane Library databases, and CINAHL from 1947 to November 2010. Search terms were [asthma] and [sickle cell disease]. Additional publications considered relevant to the sickle cell disease population of patients were identified; search terms included [sickle cell disease] combined with [acetaminophen], [pain medications], [vitamin D], [beta agonists], [exhaled nitric oxide], and [corticosteroids]. Results. The reported prevalence of asthma in children with sickle cell disease varies from 2% to approximately 50%. Having asthma increases the risk for developing acute chest syndrome , death, or painful episodes compared to having sickle cell disease without asthma. Asthma and sickle cell may be linked by impaired nitric oxide regulation, excessive production of leukotrienes, insufficient levels of Vitamin D, and exposure to acetaminophen in early life. Treatment of sickle cell patients includes using commonly prescribed asthma medications; specific considerations are suggested to ensure safety in the sickle cell population. Conclusion. Prospective controlled trials of drug treatment for asthma in patients who have both sickle cell disease and asthma are urgently needed.
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PMID:Asthma in sickle cell disease: implications for treatment. 2149 Jul 65

With age, individuals with sickle cell disease (SCD) experience daily chronic pain. Vitamin D deficiency (VDD) can result in chronic pain, osteoporosis, fractures, and muscle weakness. Several studies report a high prevalence of VDD in SCD; however, the clinical correlates have not been well described. We describe a case of SCD chronic pain associated with profound VDD, osteoporosis, and osteonecrosis. Treatment with high-dose vitamin D resulted in complete resolution of chronic pain symptoms and improvement in bone density. Randomized studies of vitamin D in SCD may help elucidate its role in the management of chronic pain and bone disease.
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PMID:Complete resolution of sickle cell chronic pain with high dose vitamin D therapy: a case report and review of the literature. 2243 May 88


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