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Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility.
Charoenngam, N, Cevik, MB, Holick, MF
Current opinion in pediatrics. 2020;(4):560-573
Abstract
PURPOSE OF REVIEW The goal of this review is to give an overview of diagnosis and up-to-date management of major pediatric metabolic bone diseases that are associated with bone fragility, including nutritional rickets, hypophosphatemic rickets, osteogenesis imperfecta, Ehlers--Danlos syndrome, Marfan's syndrome, hypophosphatasia, osteopetrosis and skeletal fluorosis. RECENT FINDINGS During the past decade, a number of advanced treatment options have been introduced and shown to be an effective treatment in many metabolic bone disorders, such as burosumab for hypophosphatemic rickets and asfotase alfa for hypophosphatasia. On the other hand, other disorders, such as nutritional rickets and skeletal fluorosis continue to be underrecognized in many regions of the world. Genetic disorders of collagen-elastin, such as osteogenesis imperfecta, Ehlers--Danlos syndrome and Marfan's syndrome are also associated with skeletal fragility, which can be misdiagnosed as caused by non-accidental trauma/child abuse. SUMMARY It is essential to provide early and accurate diagnosis and treatment for pediatric patients with metabolic bone disorders in order to maintain growth and development as well as prevent fractures and metabolic complications.
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2.
Evaluation of fracture risk in chronic kidney disease.
Torres, PAU, Cohen-Solal, M
Journal of nephrology. 2017;(5):653-661
Abstract
Chronic kidney disease (CKD) is associated with mineral and bone disorders (MBD) that are now considered as a syndrome. Bone fragility and a four to tenfold increased rate of skeletal fractures are often reported in CKD patients. The evaluation of the risk of these fractures in CKD patients should explore the same risk factors identified for the general population including low body weight, menopause, personal and familial history of osteoporosis, chronic inflammatory diseases, and corticosteroid therapy. The aim of this article is to provide a critical review of the tools used for the evaluation of bone loss and the risk of fracture in CKD patients, ranging from the measurement of bone mineral density (BMD), fracture risk assessment (Frax™), quantitative computed tomography (QCT), high-resolution peripheral quantitative computed tomography (HRpQTC), to circulating biomarkers of bone metabolism including vitamin D, parathyroid hormone (PTH), bone-specific alkaline phosphatase, osteocalcin, and some collagen type 1-related molecules indicators of bone remodeling.
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3.
Skeletal manifestations of renal disease in childhood.
Denburg, MR
Current opinion in nephrology and hypertension. 2016;(4):292-300
Abstract
PURPOSE OF REVIEW This review summarizes recent findings on musculoskeletal health in three chronic renal conditions of childhood: chronic kidney disease stages 2-5D, nephrotic syndrome, and urolithiasis. Findings with important clinical implications warranting further investigation are highlighted. RECENT FINDINGS Recent cohort studies have demonstrated a high burden of fracture and progressive deficits of cortical bone in children with chronic kidney disease. Lower cortical density is associated with incident fracture and may be an important therapeutic target. Parathyroid hormone and calcium are independent correlates of cortical density, and modifiable factors for fracture include parathyroid hormone and phosphate binder use. Children with nephrotic syndrome, even with normal renal function, have evidence of abnormal bone metabolism and structure, and vitamin D deficiency may be an important modifiable risk factor in this population. Urolithiasis has been associated with reduced bone mineral density and is increasingly common in children and adolescents. Population-based data found a significantly increased risk of fracture in adolescent males and young women. SUMMARY Recent findings substantiate concern regarding the particular vulnerability of the growing skeleton to chronic renal disease. Studies are needed to determine how to optimize assessment and management of bone health in children with these conditions, particularly in terms of calcium and vitamin D requirements, with the goal of improving childhood bone accrual for lifelong fracture prevention.
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4.
Lifestyle-Related Metabolic Disorders, Osteoporosis, and Fracture Risk in Asia: A Systematic Review.
Sugimoto, T, Sato, M, Dehle, FC, Brnabic, AJ, Weston, A, Burge, R
Value in health regional issues. 2016;:49-56
Abstract
BACKGROUND The prevalence of both lifestyle-related metabolic disorders and osteoporosis is increasing in Asia. OBJECTIVES To conduct a systematic review of the published literature to identify studies examining disorders of glucose and lipid metabolism (type 2 diabetes, hyperglycemia, hypercholesterolemia, hyperlipidemia, dyslipidemia, metabolic syndrome [MetS], and atherosclerosis) as risk factors for osteoporosis and fracture in Asian populations. Studies examining the relationship between metabolic disorders and bone mineral density (BMD) were also included. METHODS EMBASE (including MEDLINE) and the Cochrane Library were searched. Studies conducted only within Asia, which reported multivariate analysis with a sample size of 200 or more subjects, were included. RESULTS A total of 32 studies were included. All six studies examining diabetes and fracture found that subjects with diabetes had a significantly higher risk of fracture than did subjects without diabetes (risk estimate range 1.26-4.73). Two studies found that subjects with atherosclerosis had a significantly higher risk of fracture (risk estimate range 1.10-2.52). Studies consistently reported that MetS is likely associated with osteoporosis or decreased BMD in men but not women. No consistent association was found for diabetes and BMD, with studies reporting contrasting results. There was limited evidence investigating lipid metabolism and hyperglycemia and risk of fracture or bone loss in Asian populations. CONCLUSIONS These findings suggest that diabetes is a risk factor for fracture in Asian populations. MetS may be associated with bone loss in Asian men and atherosclerosis associated with increased fractures; however, caution is needed interpreting these findings given limitations in study design.
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[Case of fanconi syndrome positive for anti-M2 antibodies revealed by severe hypokalemia and multiple bone fracture].
Hara, M, Miyazawa, R, Takagi, A, Kado, H, Maki, K, Sawada, K, You, K, Hatta, T
Nihon Jinzo Gakkai shi. 2011;(5):719-25
Abstract
A 38-year-old female developed pain in the right leg in 2006. In 2007, the diagnosis of femoral head necrosis was made based on MR images, and femoral head prosthetic replacement was performed. In April 2009, she visited a local hospital for low back pain, and was referred to our department due to electrolyte abnormalities on hemanalysis. Since marked hypokalemia (K=2.5 mEq/L), hypophosphatemia, hyperchloric metabolic acidosis, proteinuria, and urinary blood sugar suggested Fanconi syndrome, she was admitted for close examination. Bone survey showed a marked decrease in the amount of bone particularly in the four limbs and fracture at the proximal 1/3 of the left ulnar bone. In the lumbar spine, scoliosis and vertebral deformity were observed. Since impaired P re-absorption and unselected aminoaciduria and osteomalacia were also present, the diagnosis of Fanconi syndrome was made. On admission, ventricular tachycardia developed due to hypokalemia, requiring immediate electrolyte correction. For differentiation from acquired Fanconi syndrome, various examinations were performed. No apparent cause was found except for the positive antimitochondrial antibody-M2 (anti-M2). In this case, no data suggested liver dysfunction, and subsequent liver biopsy also showed no significant pathological findings pointing to PBC. We encountered a patient with Fanconi syndrome positive for anti-M2. This case may attract interest, particularly in the mechanism of nephropathy due to anti-M2, and therefore, this case is reported with a literature review.
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6.
[Osteoporosis associated with the metabolic syndrome].
Yamaguchi, T
Clinical calcium. 2008;(5):606-11
Abstract
The metabolic syndrome is featured by the combination of obesity, dyslipidemia, hyperglycemia, and hypertension. It is well documented that obesity is positively linked to increased bone mineral density (BMD) and reduced fracture risk through body weight increase. Hyper-triglycemia and hypo-HDL-cholesterolemia, which are frequently accompanied with obesity, might also protect against fracture. On the other hand, clinical observations on diabetic patients suggest that hyperglycemia per se tends to reduce BMD and to increase fracture risk in contrast to the above factors. Thus, BMD and fracture risk in patients with the metabolic syndrome may be determined by the balance between beneficial effects of obesity and dyslipidemia versus detrimental ones of hyperglycemia on bone.