Polymorphisms of the vitamin D receptor and their effect on bone mass density in patients with normocalcemic hyperparathyroidism

Castrillón, José Luis Pérez; Díaz-Soto, Gonzalo; Jáuregui, Olatz Izaola; Romero, Enrique; Luis, Daniel Antonio de

doi:10.1007/s12020-015-0611-0

Cited by 5 publications

(2 citation statements)

References 20 publications

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“…It is impossible to draw conclusions in the setting of NPHPT due to the different definitions used in publications. Some studies found that PHPT and NPHPT patients had similar BTM levels ( 364 ), while others showed lower levels in NPHPT ( 365-367 ). When comparing NPHPT to controls, results are still inconsistent with one study showing higher levels ( 368 ), while another study showed similar levels ( 369 ).…”

Section: Part 2 the Use Of Btm In Clinical Practice: Potential Proble...mentioning

confidence: 99%

Bone Turnover Markers: Basic Biology to Clinical Applications

et al. 2022

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Bone turnover markers (BTMs) are used widely, in both research and clinical practice. In the last 20 years, much experience has been gained in measurement and interpretation of these markers, which include commonly used bone formation markers bone alkaline phosphatase, osteocalcin, and procollagen I N-propeptide; and commonly used resorption markers serum C-telopeptides of type I collagen, urinary N-telopeptides of type I collagen and tartrate resistant acid phosphatase type 5b. BTMs are usually measured by enzyme-linked immunosorbent assay or automated immunoassay. Sources contributing to BTM variability include uncontrollable components (e.g., age, gender, ethnicity) and controllable components, particularly relating to collection conditions (e.g., fasting/feeding state, and timing relative to circadian rhythms, menstrual cycling, and exercise). Pregnancy, season, drugs, and recent fracture(s) can also affect BTMs. BTMs correlate with other methods of assessing bone turnover, such as bone biopsies and radiotracer kinetics; and can usefully contribute to diagnosis and management of several diseases such as osteoporosis, osteomalacia, Paget’s disease, fibrous dysplasia, hypophosphatasia, primary hyperparathyroidism, and chronic kidney disease-mineral bone disorder.

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Section: Part 2 the Use Of Btm In Clinical Practice: Potential Proble...mentioning

confidence: 99%

Bone Turnover Markers: Basic Biology to Clinical Applications

et al. 2022

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“…Clinical features of NPHPT can be similar to those described in PHPT (skeletal and renal complications). Studies from referral centers have shown that the frequency of skeletal complications, osteoporosis, and fractures, is similar to PHPT in some, ( 49‐51 ) but not all studies. ( 45,52 ) Importantly, only one study ( 52 ) fulfilled the definition of NHPT.…”

Section: Introductionmentioning

confidence: 99%

Classical and Nonclassical Manifestations of Primary Hyperparathyroidism

Fuleihan

Chakhtoura

Cipriani

et al. 2020

Journal of Bone and Mineral Research

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This narrative review summarizes data on classical and nonclassical manifestations of primary hyperparathyroidism (PHPT). It is based on a rigorous literature search, inclusive of a Medline search for systematic reviews from 1940 to December 2020, coupled with a targeted search for original publications, covering four databases, from January 2013-December 2020, and relevant articles from authors' libraries. We present the most recent information, identify knowledge gaps, and suggest a research agenda. The shift in the presentation of PHPT from a predominantly symptomatic to an asymptomatic disease, with its varied manifestations, has presented several challenges. Subclinical nephrolithiasis and vertebral fractures are common in patients with asymptomatic disease. The natural history of asymptomatic PHPT with no end organ damage at diagnosis is unclear. Some observational and cross-sectional studies continue to show associations between PHPT and cardiovascular and neuropsychological abnormalities, among the different disease phenotypes. Their causal relationship is uncertain. Limited new data are available on the natural history of skeletal, renal, cardiovascular, neuropsychological, and neuromuscular manifestations and quality of life. Normocalcemic PHPT (NPHPT) is often diagnosed without the fulfillment of rigorous criteria. Randomized clinical trials have not demonstrated a consistent long-term benefit of parathyroidectomy (PTX) versus observation on nonclassical manifestations. We propose further refining the definition of asymptomatic disease, into two phenotypes: one without and one with evidence of target organ involvement, upon the standard evaluation detailed in our recommendations. Each of these phenotypes can present with or without non-classical manifestations. We propose multiple albumin-adjusted serum calcium determinations (albumin-adjusted and ionized) and exclusion of all secondary causes of high parathyroid hormone (PTH) when establishing the diagnosis of NPHPT. Refining the definition of asymptomatic disease into the phenotypes proposed will afford insights into their natural history and response to interventions. This would also pave the

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Impact of vitamin D receptor polymorphisms in centenarians

et al. 2016

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Vitamin D is a seco-sterol produced endogenously in the skin or obtained from certain foods. It exerts its action through binding to intracellular vitamin D receptor (VDR). Lately, the role of vitamin D has been revised regarding its potential advantage on delaying the process of aging. The aim of this study was to assess the contribution of VDR gene polymorphisms in healthy aging and longevity. We evaluated the frequency of four polymorphisms of the VDR gene (FokI, BsmI, ApaI, and TaqI) in centenarians (102 subjects, mean age: 102.3 ± 0.3 years), compared to septuagenarians (163 subjects, mean age: 73.0 ± 0.6 years) and we analyzed a variety of pathophysiologically relevant functions in centenarians. BsmI and ApaI provided a significant association with longevity: there was a highly significant difference in the frequency of BsmI genotypes (p = 0.037), ApaI genotypes (p = 0.022), and ApaI alleles (p = 0.050) in centenarians versus septuagenarians. Furthermore, we found a significant correlation of all the VDR gene polymorphisms in centenarians with some measured variables such as hand grip strength, body mass index, blood pressure, HDL cholesterol, and mini-mental state examination. We also found a correlation with the prevalence of medical history of hypertension, acute myocardial infarction, angina, venous insufficiency, dementia, chronic obstructive pulmonary disease, and arthrosis. In conclusion, this study proposes a new scenario in which the variability of the VDR gene is relevant in the aging process and emphasizes the role of VDR genetic background in determining healthy aging.

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Polymorphisms of the vitamin D receptor and their effect on bone mass density in patients with normocalcemic hyperparathyroidism

Cited by 5 publications

References 20 publications

Bone Turnover Markers: Basic Biology to Clinical Applications

Bone Turnover Markers: Basic Biology to Clinical Applications

Classical and Nonclassical Manifestations of Primary Hyperparathyroidism

Impact of vitamin D receptor polymorphisms in centenarians

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