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https://www.readbyqxmd.com/read/29344330/developments-in-rare-bone-diseases-and-mineral-disorders
#1
REVIEW
Siobhan Bacon, Rachel Crowley
In the last decade, there have been a number of significant advances made in the field of rare bone diseases. In this review, we discuss the expansion of the classification system for osteogenesis imperfecta (OI) and the resultant increase in therapeutic options available for management of OI. Bisphosphonates remain the most widely used intervention for OI, although the effect on fracture rate reduction is equivocal. We review the other therapies showing promising results, including denosumab, teriparatide, sclerostin, transforming growth factor β inhibition and gene targeted approaches...
January 2018: Therapeutic Advances in Chronic Disease
https://www.readbyqxmd.com/read/29331397/persistent-hyperparathyroidism-as-a-risk-factor-for-long-term-graft-failure-the-need-to-discuss-indication-for-parathyroidectomy
#2
Maria Júlia Correia Lima Nepomuceno Araujo, Janaina Almeida Mota Ramalho, Rosilene Motta Elias, Vanda Jorgetti, William Nahas, Melani Custodio, Rosa M A Moysés, Elias David-Neto
BACKGROUND: Although a successful kidney transplant (KTx) improves most of the mineral and bone disorders (MBD) produced by chronic kidney disease (CKD), hyperparathyroidism may persist (pHPT). Current guidelines recommend parathyroidectomy if serum parathormone is persistently elevated 1 year after KTx, because pHPT has been recently associated with poor graft outcomes. However, whether patients with pHPT and adequate renal function are at risk for long-term graft failure is unknown...
January 10, 2018: Surgery
https://www.readbyqxmd.com/read/29280738/genetic-causes-of-rickets
#3
Sezer Acar, Korcan Demir, Yufei Shi
Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B)...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29229170/care-of-the-pediatric-patient-on-chronic-dialysis
#4
REVIEW
Annabelle N Chua, Bradley A Warady
Optimal care of the pediatric end-stage renal disease (ESRD) patient on chronic dialysis is complex and requires multidisciplinary care as well as patient/caregiver involvement. The dialysis team, along with the family and patient, should all play a role in choosing the dialysis modality which best meets the patient's needs, taking into account special considerations and management issues that may be particularly pertinent to children who receive peritoneal dialysis or hemodialysis. Meticulous attention to dialysis adequacy in terms of solute and fluid removal, as well as to a variety of clinical manifestations of ESRD, including anemia, growth and nutrition, chronic kidney disease-mineral bone disorder, cardiovascular health, and neurocognitive development, is essential...
November 2017: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/29195858/phosphate-binder-use-in-us-dialysis-patients-prevalence-costs-evidence-and-policies
#5
Wendy L St Peter, Lori D Wazny, Eric D Weinhandl
Medicare costs for phosphate binders for US dialysis patients and patients with chronic kidney disease enrolled in Medicare Part D exceeded $1.5 billion in 2015. Previous data have shown that Part D costs for mineral and bone disorder medications increased faster than costs for all Part D medications for dialysis patients. Despite extensive use of phosphate binders and escalating costs, conclusive evidence is lacking that they improve important clinical end points in dialysis patients or non-dialysis-dependent patients with chronic kidney disease...
November 28, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29187373/klotho-activin-a-in-kidney-injury-plasma-klotho-is-maintained-in-unilateral-obstruction-despite-no-upregulation-of-klotho-biosynthesis-in-contralateral-kidney
#6
Anders Nordholm, Maria L Mace, Eva Gravesen, Jacob Hofman-Bang, Marya Morevati, Klaus Olgaard, Ewa Lewin
In a new paradigm of etiology related to Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD) kidney injury may cause induction of factors in the injured kidney that are released into the circulation and thereby initiate and maintain renal fibrosis and CKD-MBD. Klotho is believed to ameliorate renal fibrosis and CKD-MBD, while ActivinA might have detrimental effects. The unilateral ureter obstruction (UUO) model is used here to examine this concept by investigating early changes related to renal fibrosis in obstructed kidney, untouched contralateral kidney and vasculature, which might be affected by secreted factors from the obstructed kidney, and compared to unilateral nephrectomized controls (UNX)...
November 29, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29175269/sclerostin-deficiency-modifies-the-development-of-ckd-mbd-in-mice
#7
Nadine Kaesler, Anja Verhulst, Annelies De Maré, Annika Deck, Geert J Behets, Ayshe Hyusein, Pieter Evenepoel, Jürgen Floege, Nikolaus Marx, Anne Babler, Ina Kramer, Michaela Kneissel, Rafael Kramann, Daniel Weis, Patrick C D'Haese, Vincent M Brandenburg
Sclerostin is a soluble antagonist of canonical Wnt signaling and a strong inhibitor of bone formation. We present experimental data on the role of sclerostin in chronic kidney disease - bone mineral disorder (CKD-MBD). METHODS: We performed 5/6 nephrectomies in 36-week-old sclerostin-deficient (SOST-/-) B6-mice and in C57BL/6J wildtype (WT) mice. Animals received a high phosphate diet for 11weeks. The bones were analyzed by high-resolution micro-computed tomography (μCT) and quantitative bone histomorphometry...
November 21, 2017: Bone
https://www.readbyqxmd.com/read/29163188/elevated-levels-of-peripheral-kynurenine-decrease-bone-strength-in-rats-with-chronic-kidney-disease
#8
Bartlomiej Kalaska, Krystyna Pawlak, Tomasz Domaniewski, Ewa Oksztulska-Kolanek, Beata Znorko, Alicja Roszczenko, Joanna Rogalska, Malgorzata M Brzoska, Pawel Lipowicz, Michal Doroszko, Anna Pryczynicz, Dariusz Pawlak
The diagnosis and treatment of bone disorders in patients with chronic kidney disease (CKD) represent a clinical challenge. CKD leads to mineral and bone complications starting early in the course of renal failure. Recently, we have observed the positive relationship between intensified central kynurenine turnover and bone strength in rats with subtotal 5/6 nephrectomy (5/6 Nx)-induced CKD. The aim of the present study was to determine the association between peripheral kynurenine pathway metabolites and bone strength in rats with 5/6 Nx-induced CKD...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29144803/endocrine-manifestations-of-primary-hyperoxaluria
#9
Shatha Murad, Yuval Eisenberg
OBJECTIVE: Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder of oxalate overproduction. It is associated with urolithiasis and nephrocalcinosis which progress to ESRD and systemic oxalosis. As oxalate deposits in tissues, non-parathyroid hormone (nonPTH) mediated hypercalcemia, oxalate osteopathy, primary hypothyroidism and primary hypogonadism develop. In this review, we will present a case of PH1 and provide an overview of this clinical entity and its endocrine manifestations...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29143140/impact-of-conventional-medical-therapy-on-bone-mineral-density-and-bone-turnover-in-adult-patients-with-x-linked-hypophosphatemia-a-6-year-prospective-cohort-study
#10
Vikram Vinod Shanbhogue, Stinus Hansen, Niklas Rye Jørgensen, Signe Sparre Beck-Nielsen
X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, it is undecided whether adults should continue therapy. The aim of this 6-year prospective study was to determine the impact of conventional medical treatment on areal bone mineral density (aBMD), bone turnover markers (BTMs) and measures of calcium homeostasis in 27 adult patients with XLH, 11 of whom received medical treatment...
November 15, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29118767/long-term-progression-of-coronary-artery-calcification-is-independent-of-classical-risk-factors-c-reactive-protein-and-parathyroid-hormone-in-renal-transplant-patients
#11
Sibel Gulcicek, Carmine Zoccali, Deniz Çebi Olgun, Giovanni Tripepi, Selma Alagoz, Serkan Feyyaz Yalın, Sinan Trabulus, Mehmet R Altiparmak, Nurhan Seyahi
Aims: Compared to the general population, mortality is significantly increased in renal transplant recipients. In the general population, coronary artery calcification (CAC) and its evolution over time are associated with cardiovascular and all-cause mortality, and the study of this biomarker could provide useful information for describing the long-term progression of coronary heart disease in renal transplant recipients. Methods: We followed up a cohort of 113 renal transplant patients by performing three multi-detector computed tomography studies over 83...
October 2017: Cardiorenal Medicine
https://www.readbyqxmd.com/read/29104033/oral-and-maxillofacial-manifestations-of-chronic-kidney-disease-mineral-and-bone-disorder-a-multicenter-retrospective-study
#12
Flávia Sirotheau Corrêa Pontes, Márcio Ajudarte Lopes, Lucas Lacerda de Souza, Diogo Dos Santos da Mata Rezende, Alan Roger Santos-Silva, Jacks Jorge, Wagner Gomes da Silva, Fábio Ramôa Pires, André Caroli Rocha, Wladimir Gushiken de Campos, Milena Coelho Fernandes Caldato, Regina Matsunaga Martin, Felipe Paiva Fonseca, Hélder Antônio Rebelo Pontes
OBJECTIVE: To describe the oral and maxillofacial manifestations of patients diagnosed with chronic kidney disease-mineral and bone disorders. STUDY DESIGN: Over a 13-year period, clinicopathologic data of patients diagnosed with CKD-MBD who had oral and maxillofacial alterations were retrieved from the files of 4 Brazilian institutions. Data included clinical, radiographic, microscopic, and biochemical findings; treatment employed; and follow-up status. RESULTS: Twenty-one cases were identified, with 13 patients diagnosed as brown tumor of hyperparathyroidism (BTH) and 8 as osteitis fibrosa/renal osteodystrophy (OF/RO) (4 of them clinically consistent with Sagliker syndrome)...
January 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29080646/the-use-of-vitamin-d-metabolites-and-analogues-in-the-treatment-of-chronic-kidney-disease
#13
REVIEW
Ladan Zand, Rajiv Kumar
Chronic kidney disease (CKD) and end-stage renal disease (ESRD) are associated with abnormalities in bone and mineral metabolism, known as CKD-bone mineral disorder. CKD and ESRD cause skeletal abnormalities characterized by hyperparathyroidism, mixed uremic osteodystrophy, osteomalacia, adynamic bone disease, and frequently enhanced vascular and ectopic calcification. Hyperparathyroidism and mixed uremic osteodystrophy are the most common manifestations due to phosphate retention, reduced concentrations of 1,25-dihydroxyvitamin D, intestinal calcium absorption, and negative calcium balance...
December 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/29075077/bone-histo-morphology-in-chronic-kidney-disease-mineral-bone-disorder
#14
Khuraijam Bembem, Tejinder Singh, Narinder Pal Singh, Alpana Saxena, Shyama Lata Jain
Chronic Kidney Disease-Mineral Bone Disorder(CKD-MBD) is a systemic disorder of the mineral and bone metabolism seen in patients with Chronic Kidney Disease(CKD). It is manifested by either one or a combination of the following: (a) Abnormalities of calcium, phosphorus, PTH, or vitamin D metabolism. (b) Abnormalities in bone turnover, mineralization, volume, linear growth, or strength. (c) Vascular or other soft- tissue calcification. Renal osteodystrophy measures the skeletal component of CKD-MBD. To study the histomorphology of bone marrow biopsy in patients with CKD-MBD and correlate the histological features of bone biopsy with the clinicobiochemical parameters...
December 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29068572/the-assessment-of-prosthetic-needs-of-esrd-patients-and-the-general-population-in-poland-on-the-basis-of-the-eichner-classification-and-teeth-number-a-brief-preliminary-report
#15
Marta Miernik, Katarzyna Madziarska, Marian Klinger, Wacław Weyde, Włodzimierz Więckiewicz
BACKGROUND: End-stage renal disease (ESRD) patients are considered as a group of high risk of oral cavity diseases. One of the determinants of alveolar bone loss and increased teeth mobility in ESRD patients might be the bone abnormalities associated with chronic kidney disease-mineral and bone disorder (CKD-MBD). OBJECTIVES: The aim of the study was to compare the general health condition, number and location of teeth in a group of ESRD patients with the group of peers from general population and revealing the risk factors of tooth loss...
August 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28992140/inflammation-induces-osteoclast-differentiation-from-peripheral-mononuclear-cells-in-chronic-kidney-disease-patients-crosstalk-between-the-immune-and-bone-systems
#16
Cesira Cafiero, Margherita Gigante, Giacomina Brunetti, Simona Simone, Nada Chaoul, Angela Oranger, Elena Ranieri, Silvia Colucci, Giovanni B Pertosa, Maria Grano, Loreto Gesualdo
Background: Inflammation and immune system alterations contribute to bone damage in many pathologies by inducing the differentiation of osteoclasts (OCs), the bone resorbing cells. This link is largely unexplored in chronic kidney disease (CKD) and haemodialysis (HD) patients, in which reduced renal function is accompanied by an increased inflammatory state and skeletal abnormality. Methods: We used ex vivo culture experiments to investigate the osteoclastogenic potential of peripheral blood mononuclear cells (PBMCs) of CKD and HD patients, focusing on immune cell subsets and inflammatory cytokines such as LIGHT and receptor activator of nuclear factor κB ligand (RANKL)...
July 21, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28989152/-correlations-of-fgf23-and-klotho-with-cardiovascular-injury-in-chronic-kidney-disease-patients
#17
Lu Gan, Qiaoling Zhou
To analyze the levels of serum calcium, phosphate, fibroblast growth factor 23 (FGF23), and Klotho proteins in patients with chronic kidney disease (CKD), and to investigate the correlations of FGF23 and Klotho proteins with cardiac complicates in patients with chronic kidney disease-mineral and bone disorder (CKD-MBD).
 Methods: A total of 180 CKD-MBD patients were enrolled for this study. Among them, 60 patients underwent regular hemodialysis, 60 patients did not undergo renal replacement therapy and 60 patients were diagnosed as second hyperparathyroidism (SHPT)...
September 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28974744/variations-of-parathyroid-hormone-and-bone-biomarkers-are-concordant-only-after-a-long-term-follow-up-in-hemodialyzed-patients
#18
Pierre Delanaye, Xavier Warling, Martial Moonen, Nicole Smelten, François Jouret, Jean-Marie Krzesinski, Nicolas Maillard, Hans Pottel, Etienne Cavalier
End-stage renal disease is associated with mineral and bone disorders. Guidelines recommending therapies should be based on serial assessments of biomarkers, and thus on variations (Δ), rather than scattered values. We analyzed the correlations between ΔPTH and Δbone biomarkers such as bone-specific alkaline phosphatase (b-ALP), Beta-CrossLaps (CTX), osteocalcin, intact serum procollagen type-1 N-propeptide (P1NP), and tartrate-resistant acid phosphatase 5B (TRAP-5B) at different time-points. In this prospective observational analysis, variations of biomarkers were followed after 6-week (n = 129), 6-month (n = 108) and one-year (n = 93) period...
October 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28942400/extreme-bony-pelvic-deformity-in-a-renal-transplant-patient
#19
Alexander Henry Moffat, Priyesh Chauhan, Surabhi Choudhary, Tarekegn Geberhiwot
A 35-year-old female renal transplant recipient was referred to the metabolic bone clinic because of a 15 cm loss of height. She was noted to have thoracic kyphosis and vertebral X-ray confirmed a wedge fracture of the eighth thoracic vertebra. She was managed accordingly but on subsequent follow-up mentioned in passing that her gynaecologist had been unable to obtain a cervical smear for routine screening. This led to further questioning, and the patient reported intermittent urinary stress incontinence, feelings of vaginal fullness and severe dyspareunia...
September 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28937054/the-importance-of-bone-biopsy-in-chronic-kidney-disease-mineral-bone-disorders
#20
REVIEW
Periklis Dousdampanis, Kostantina Trigka
Renal osteodystrophy (ROD) is not a uniform bone disease; it is a heterogeneous group of metabolic bone diseases due to chronic kidney disease (CKD). The traditional term of ROD does not accurately include the wide spectrum of "CKD-mineral and bone disorder" (CKD-MBD) and has been restricted to define the several specific histologic disturbances of bone disease associated with CKD. Circulating parathyroid hormone (PTH) and total alkaline phosphatase levels do not always reflect bone turnover in CKD-MBD, whereas bone biopsy provides precise information regarding bone pathology...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
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