Gene/Protein Disease Symptom Drug Enzyme Compound
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 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In hypophosphatemic rickets, there are both inherited and acquired forms, where X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form and caused by mutations in the phosphate-regulating endopeptidase (PHEX) gene. XLH is associated with growth retardation and bone deformities. The renal tubular cells have an important role in calcium and phosphate metabolism, where the 1alpha-hydroxylase enzyme metabolizes the conversion of 25 (OH)-vitamin D to potent 1,25 (OH)2-vitamin D, whereas the sodium-phosphate transporter controls tubular phosphate reabsorption. The pathophysiological defect in XLH is speculated to cause an increase in a circulating phosphate regulating hormone termed phosphatonin (fibroblast growth factor 23 is the primary phosphatonin candidate), which leads to inhibition of 1alpha-hydroxylase, and simultaneously to inhibition of the sodium-phosphate transporter domain NPT2c leading to parathyroid hormone-independent phosphaturia. Hence, current treatment of XLH is 1,25 (OH)2-vitamin D or the vitamin D analog alfacalcidol and elementary phosphorus. Unfortunately, patients with XLH may develop nephrocalcinosis, secondary or tertiary hyperparathyroidism, and in some situations also hypertension and cardiovascular abnormalities. We describe a patient with XLH caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant hyperparathyroidism, hypercalcemia, renal failure, and hypertension. We also report the use of the calcimimetic drug cinacalcet in the successful treatment of hypercalcemia and hyperparathyroidism.
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PMID:A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 1877 77

Most of the population receive their nutritional vitamin D requirements through exposure to solar ultraviolet (UV) radiation, with cutaneous synthesis estimated to provide 80-100% of the vitamin D requirements of the body. However, little is understood about the basic interaction of sunlight (UV) exposure and the subsequent photobiology and photochemistry of vitamin D production in humans. Low vitamin D (blood serum 25[OH]D) status has been linked to the development of a surprisingly wide range of diseases. Epidemiological data and animal studies indicate that low vitamin D is linked to rickets, bone mass loss, multiple sclerosis, hypertension, breast cancer, prostate cancer, colorectal cancer, insulin dependent diabetes and schizophrenia. Importantly some this emerging research associates such diseases with location and subsequent ultraviolet radiation exposures. This paper overviews concepts important to consider when assessing the impact of location and UV exposure on vitamin D synthesis.
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PMID:Geographic location and vitamin D synthesis. 1878 59

For most people in Australia, the primary source of vitamin D is casual exposure to sunlight. Hypovitaminosis D has been reported for high-risk populations, but little has been documented for women of all ages living in the community. Using cross-sectional data, we aimed to describe physical and behavioural characteristics associated with serum 25-hydroxyvitamin D (25OHD) for such women and to determine the association of serum 25OHD with hypertension and bone health. Serum 25OHD, parathyroid hormone (PTH), blood pressure, bone mineral density (BMD) and anthropometry were measured in a random sample of 861 women aged 20-92 years enrolled in the Geelong Osteoporosis Study, set in a temperate region at latitude 38-39 degrees S. Lifestyle factors (including diet, smoking, medication use, socio-economic status, residence, education, occupation, and physical activity) were documented by questionnaire. In season-adjusted models for women aged 20-54 years, physical activity and living with a partner were independently and positively associated with serum 25OHD; associations with weight and waist-hip ratio were negative. Among older women, physical activity, vitamin D intake and urban dwelling were positively associated with serum 25OHD; age, weight and smoking were negative. Compared with the lowest tertile, those in the highest serum 25OHD tertile were less likely to have elevated serum PTH (adjusted OR=0.25, 95% CI 0.16-0.41) and high blood pressure (adjusted OR=0.40, 95% CI 0.22-0.72), and more likely to have normal hip and spine BMD (adjusted OR=1.65, 95% CI 1.08-2.52). In multivariable models adjusting for season, age, weight (and height), BMD was associated with serum 25OHD at the spine, hip and whole body; no associations were detected at the forearm and no other characteristics were identified as confounders. Factors associated with high vitamin D status generally reflected healthy body habitus and active lifestyles. In contrast, excessive weight and smoking were associated with poorer vitamin D status. Women with high vitamin D were less likely to have elevated PTH, hypertension or bone deficits than women with poor levels.
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PMID:Behavioural and physical characteristics associated with vitamin D status in women. 1926 57

It is the purpose of this comprehensive report to outline a revolutionary strategy to prevent vitamin D deficiency in our nation. Vitamin D is a unique vitamin. Its metabolic product, calcitriol, is a profound secosteroid hormone that has impact on over 1000 genes in the human body. Recent clinical research has implicated vitamin D deficiency as a major factor in the etiology of rickets, a wide variety of cancers, as well as hypertension, stroke, heart attack, diabetes, bone fractures, periodontal disease, and even multiple sclerosis. There are two forms of vitamin D utilized in the human body: D2 and D3. Measurement of 25(OH)D is the most reliable method of detecting vitamin D deficiency. Several methods, including high-performance liquid chromatography (HPLC), chemoluminescence, and radioimmunoassay (RIA), have been developed for the measurement of total 25(OH)D levels. Prevention and treatment of vitamin D deficiency is accomplished by regulated sun exposure as well as vitamin D, supplementation. This information describing our plan to prevent vitamin D deficiency in the patients and employees of Legacy Health System is a landmark accomplishment that should be replicated in every healthcare setting in our country to prevent vitamin D deficiency.
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PMID:Modern concepts in the diagnosis and treatment of vitamin D deficiency and its clinical consequences. 1939 50

The natural selection hypothesis suggests that lighter skin colour evolved to optimise vitamin D production. Some authors question if vitamin D deficiency leads to sufficient health problems to act as a selection pressure. This paper reviews the numerous effects of vitamin D deficiency on human health and argues that vitamin D deficiency is sufficient to pose as a potent selection pressure for lighter skin colour. Vitamin D deficiency manifesting as rickets and osteomalacia are sufficient to impair reproductive success, but additionally, animal studies and some clinical observations suggest that vitamin D may have more direct impact on human fertility. Vitamin D deficiency may lead to a whole host of clinical conditions which impair health and increase mortality rates: increase susceptibility to bacterial and viral infections; rickets, osteomalacia and osteoporosis, with increased risk of falls and fractures; increased risk of cancers; hypertension and cardiovascular disease; maturity onset diabetes; autoimmune diseases such as multiple sclerosis, rheumatoid arthritis, inflammatory bowel disease and Type 1 diabetes; and gum disease. We submit that at higher latitudes, lighter skin colour evolved to facilitate vitamin D production under conditions of low ultra-violet B radiation in order to avoid a plethora of ill health, reproductive difficulties and early mortality.
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PMID:Vitamin D: in the evolution of human skin colour. 1971 44

Hypovitaminosis D is suspected to be linked to several types of cancer, metabolic syndrome, cardiovascular disease, and all-cause mortality. This review explores the relationship of vitamin D to blood pressure and hypertension, a major cardiovascular disease risk factor. The literature up to June 2009 was searched without language or time restrictions from MEDLINE and PubMed, and it was supplemented with references from included studies. Ten observational studies and nine randomized control trials concerned with the association between vitamin D and blood pressure were identified and analyzed. Of these, eight observational studies and three randomized control trials supported an inverse association between vitamin D and blood pressure. Current observational studies strongly support an inverse association between vitamin D and blood pressure, but this association has yet to be convincingly supported with randomized control trials. More research is needed to determine the amount of vitamin D supplementation or ultraviolet B irradiation needed to maintain optimal serum 25-hydroxyvitamin D levels and to lower high blood pressure and to determine who can benefit from vitamin D supplementation or ultraviolet B irradiation.
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PMID:Role of vitamin D in blood pressure homeostasis. 2164 32

Vitamin D deficiency is becoming increasingly common in the USA. In this review we provide estimates of the prevalence of deficiency, and review the risk factors and the evidence of clinical consequences of vitamin D deficiency. Vitamin D deficiency causes the pediatric disease rickets. In addition, there is some evidence that vitamin D deficiency may lead to other diseases including diabetes mellitus, hypertension, infections, asthma and dyslipidemia.
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PMID:Low levels of 25-hydroxyvitamin D in the pediatric populations: prevalence and clinical outcomes. 2049 Feb 83

Calcium (Ca) is an essential nutrient for plants and animals, with key structural and signalling roles, and its deficiency in plants can result in poor biotic and abiotic stress tolerance, reduced crop quality and yield. Likewise, low Ca intake in humans has been linked to various diseases (e.g. rickets, osteoporosis, hypertension and colorectal cancer) which can threaten quality of life and have major economic costs. Biofortification of various food crops with Ca has been suggested as a good method to enhance human intake of Ca and is advocated as an economically and environmentally advantageous strategy. Efforts to enhance Ca content of crops via transgenic means have had promising results. Overall Ca content of transgenic plants has been increased but in some cases adverse affects on plant function have been observed. This suggests that a better understanding of how Ca ions (Ca(2+)) are stored and transported through plants is required to maximise the effectiveness of future approaches.
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PMID:Calcium storage in plants and the implications for calcium biofortification. 2065 53

X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate and vitamin D preparations is sometimes complicated with nephrocalcinosis, secondary or tertiary hyperparathyroidism and arterial hypertension. We describe a patient with XLH, caused by a rare missense mutation of the PHEX gene. The patient, while under treatment with alphacalcidol and oral phosphate, developed hypercalciuria, nephrocalcinosis, secondary hyperparathyroidism and arterial hypertension. Cinacalcet was added to the therapeutic regimen and the long-term effects on calciotropic parameters and FGF23 levels are herein reported.
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PMID:Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review. 2068 26

Vitamin D has an essential role in calcium metabolism and bone health. Vitamin D3 or cholecalciferol is synthesized from 7-dehydrocholesterol or provitamin D3, by sunlight ultraviolet radiation to the skin. 7-dehydrocholesterol is subsequently hydroxylated in the liver and then in the kidney to produce 1,25-(OH)2D3, the active metabolite that binds to specific receptors (VDR) in target tissues, mainly bone and intestine. Other tissues, such as the immune and cardiovascular system, have also VDR. Vitamin D deficiency can induce rickets in children and osteomalacia and osteoporosis in adults. A possible inverse association between vitamin D levels and the prevalence of metabolic syndrome has been proposed. Vitamin D deficiency increases the risk of type 1 diabetes, insulin resistance, and hypertension, key components of this syndrome. However, other studies have not confirmed this association. Further clinical and experimental studies are needed to ascertain the role of vitamin D in metabolic syndrome.
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PMID:[Association between vitamin D deficiency and metabolic syndrome]. 2127 81


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