collection
https://read.qxmd.com/read/37427438/approach-to-rickets-is-it-calciopenic-or-phosphopenic
#1
JOURNAL ARTICLE
Sema Nilay Abseyi, Zeynep Şıklar
Rickets is a childhood disorder of decreased mineralization of bone tissue. It is either calciopenic or phosphopenic, according to the deficient mineral. Calcium, phosphate, and vitamin D metabolism should be known to understand the pathophysiology of rickets. A deficiency of calcium or vitamin D can be caused by several conditions. These conditions lead to defective osteoid mineralization, impaired chondrocyte differentiation, and apoptosis in the growth plate, resulting in clinical and radiological findings of rickets...
September 2023: Turkish archives of pediatrics
https://read.qxmd.com/read/37707589/linear-growth-of-children-with-x-linked-hypophosphatemia-treated-with-burosumab-a-real-life-observational-study
#2
JOURNAL ARTICLE
Yael Levy-Shraga, Shelly Levi, Ravit Regev, Shoshana Gal, Avivit Brener, Yael Lebenthal, David Gillis, David Strich, Amnon Zung, Roxana Cleper, Yael Borovitz, Rachel Bello, Ariel Tenenbaum, Zvi Zadik, Miriam Davidovits, Leonid Zeitlin, Dov Tiosano
UNLABELLED: To assess the long-term efficacy of burosumab for pediatric patients with X-linked hypophosphatemia, focusing on linear growth. This multi-center retrospective study included 35 pediatric patients who began treatment with burosumab between January 2018 and January 2021. We collected clinical data, anthropometric measurements, laboratory results, and Rickets Severity Score (RSS), from 2 years prior to treatment initiation and up to 4 years after. Burosumab was initiated at a mean age of 7...
September 14, 2023: European Journal of Pediatrics
https://read.qxmd.com/read/37047636/mineral-metabolism-in-children-interrelation-between-vitamin-d-and-fgf23
#3
REVIEW
Oscar D Pons-Belda, Mª Agustina Alonso-Álvarez, Juan David González-Rodríguez, Laura Mantecón-Fernández, Fernando Santos-Rodríguez
Fibroblast growth factor 23 (FGF23) was identified at the turn of the century as the long-sought circulating phosphatonin in human pathology. Since then, several clinical and experimental studies have investigated the metabolism of FGF23 and revealed its relevant pathogenic role in various diseases. Most of these studies have been performed in adult individuals. However, the mineral metabolism of the child is, to a large extent, different from that of the adult because, in addition to bone remodeling, the child undergoes a specific process of endochondral ossification responsible for adequate mineralization of long bones' metaphysis and growth in height...
April 3, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37074534/refractory-rickets
#4
REVIEW
Amish Chinoy, Raja Padidela
Nutritional rickets, caused by vitamin D and/or calcium deficiency is by far the most common cause of rickets. In resource-limited settings, it is therefore not uncommon to treat rickets with vitamin D and calcium. If rickets fails to heal and/or if there is a family history of rickets, then refractory rickets should be considered as a differential diagnosis. Chronic low serum phosphate is the pathological hallmark of all forms of rickets as its low concentration in extracellular space leads to the failure of apoptosis of hypertrophic chondrocytes leading to defective mineralisation of the growth plate...
June 2023: Indian Journal of Pediatrics
https://read.qxmd.com/read/36843296/approach-to-nutritional-rickets
#5
REVIEW
Hüseyin Anıl Korkmaz, Raja Padidela, Behzat Ozkan
Rickets is the disease of a growing skeleton and results from impaired apoptosis of hypertrophic chondrocytes and mineralization of the growth plate. Nutritionally induced rickets, secondary to vitamin D and/or calcium deficiency, remains a major global problem. In this review, we discuss pathogenesis, clinical signs, investigation and management of nutritional rickets.
February 28, 2023: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/36719566/self-administration-of-burosumab-in-children-and-adults-with-x-linked-hypophosphataemia-in-two-open-label-single-arm-clinical-studies
#6
JOURNAL ARTICLE
Takuo Kubota, Noriyuki Namba, Hiroyuki Tanaka, Koji Muroya, Yasuo Imanishi, Yasuhiro Takeuchi, Masanori Kanematsu, Wei Sun, Yoshiki Seino, Keiichi Ozono
INTRODUCTION: X-linked hypophosphataemia (XLH) is a rare, genetic renal phosphate-wasting disease, resulting from excess fibroblast growth factor 23 (FGF23) activity, which has a progressive and profound impact on patients throughout life. The monoclonal anti-FGF23 antibody, burosumab, is a subcutaneous injection indicated for the treatment of XLH in children and adults. Originally, burosumab was approved to be administered by a healthcare professional (HCP), but the option of self-administration would enable patient independence and easier access to treatment...
January 31, 2023: Advances in Therapy
https://read.qxmd.com/read/36717209/burosumab-in-management-of-x-linked-hypophosphataemia-a-retrospective-cohort-study-of-growth-and-serum-phosphate-levels
#7
JOURNAL ARTICLE
Emma Yi Xiu Walker, Timothy Alexander James Lindsay, Jeremy Allgrove, Matko Marlais, Detlef Bockenhauer, Wesley Hayes
BACKGROUND: Burosumab, an antifibroblast growth factor 23 monoclonal antibody, improves rickets severity, symptoms and growth in children with X-linked hypophosphataemia (XLH) followed up to 64 weeks in clinical trials. International dosing guidance recommends targeting normal serum phosphate concentration; however, some children may not achieve this despite maximal dosing. This study compares clinical outcomes in children with XLH on long-term burosumab treatment who achieved normal phosphate versus those who did not...
May 2023: Archives of Disease in Childhood
https://read.qxmd.com/read/36619587/the-genetic-and-epigenetic-contributions-to-the-development-of-nutritional-rickets
#8
REVIEW
Innocent Ogunmwonyi, Adewale Adebajo, Jeremy Mark Wilkinson
Nutritional rickets is an important disease in global health. Although nutritional rickets commonly manifests as bony deformities, there is an increased risk of life-threatening seizures secondary to hypocalcaemia. Dietary vitamin D deficiency is associated with the development of nutritional rickets among children and infants. This is especially true in populations of darker skinned individuals in high-latitude environments due to decreased ultraviolet light exposure, and in populations in tropical and subtropical climates due to cultural practices...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/36542147/sex-differences-of-burosumab-in-children-with-x-linked-hypophosphataemic-rickets
#9
JOURNAL ARTICLE
Guido Filler, Olivia Tremblay, Emily Chen, Susan Shi Han Huang, Robert Stein
BACKGROUND: The severity of X-linked hypophosphataemic rickets (XLH) may be affected by genotype and sex. However, burosumab, a fully humanized monoclonal antibody against fibroblast growth factor 23, has the same pediatric dose recommendation for both sexes (0.8 mg/kg every 2 weeks). PATIENTS AND METHODS: In a retrospective cohort study, we describe the burosumab response differences by sex in children with XLH. RESULTS: We treated 10 children (5 females, mean age at initiation 4...
December 21, 2022: Pediatric Nephrology
https://read.qxmd.com/read/36398111/burosumab-and-dental-abscesses-in-children-with-x-linked-hypophosphatemia
#10
JOURNAL ARTICLE
Margaux Gadion, Agathe Hervé, Julia Herrou, Anya Rothenbuhler, Violaine Smail-Faugeron, Frédéric Courson, Agnès Linglart, Catherine Chaussain, Martin Biosse Duplan
X-linked hypophosphatemia (XLH) is a rare genetic disorder that disrupts skeletal and dental mineralization. In addition to rickets in children, XLH patients also have frequent spontaneous dental abscesses that increase the risk of tooth loss and may lead to facial cellulitis. Hypomineralized and hypoplastic dentin is the main driver of these infections. Conventional treatment (CT) of XLH improves this tissue defect and reduces the occurrence of dental abscesses. Burosumab is a recent treatment for XLH that targets excess circulating fibroblast growth factor 23 (FGF23), and its benefits on rickets have been demonstrated...
November 2022: JBMR Plus
https://read.qxmd.com/read/35981346/approach-to-hypophosphatemic-rickets
#11
JOURNAL ARTICLE
Sarah A Ackah, Erik A Imel
Hypophosphatemic rickets typically presents in infancy or early childhood with skeletal deformities and growth plate abnormalities. The most common causes are genetic (such as X-linked hypophosphatemia), and these typically will result in lifelong hypophosphatemia and osteomalacia. Knowledge of phosphate metabolism, including the effects of fibroblast growth factor 23 (FGF23) (an osteocyte produced hormone that downregulates renal phosphate reabsorption and 1,25-dihydroxyvitamin-D (1,25(OH)2D) production), is critical to determining the underlying genetic or acquired causes of hypophosphatemia and to facilitate appropriate treatment...
December 17, 2022: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/36049757/novel-therapeutic-agents-for-rare-diseases-of-calcium-and-phosphate-metabolism
#12
JOURNAL ARTICLE
Afroditi Roumpou, Maria P Yavropoulou, Efstathios Chronopoulos, Eva Kassi
The last decade has been revolutionary regarding the management of rare bone diseases caused by impaired calcium and phosphate metabolism. Elucidation of the underlying genetic basis and pathophysiologic alterations has been the determinant factor for the development of new, disease-specific treatment agents. The phosphaturic hormone Fibroblast Growth Factor 23 (FGF23) possesses a critical role in the pathogenesis of various hypophosphatemic disorders. Among them, the genetic disorder of X-linked hypophosphatemia and the acquired syndrome of tumor-induced osteomalacia, although very rare, have attracted the scientific community's attention towards designing an FGF23-inhibitor as a potential specific therapy...
October 2022: Hormone and Metabolic Research
https://read.qxmd.com/read/36082134/post-authorisation-safety-study-of-burosumab-use-in-paediatric-adolescent-and-adult-patients-with-x-linked-hypophosphataemia-rationale-and-description
#13
JOURNAL ARTICLE
Maria Luisa Brandi, Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M Boot, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M Carola Zillikens, Jonathan Liu, Alina Tudor, M Zulf Mughal
Background: X-linked hypophosphataemia (XLH) is a rare, inherited, phosphate-wasting disorder that elevates fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D (1,25(OH)2 D) synthesis. Disease characteristics include rickets, osteomalacia, odontomalacia, and short stature. Historically, treatment has been oral phosphate and 1,25(OH)2 D supplements. However, these treatments do not correct the primary pathogenic mechanism or treat all symptoms and can be associated with adverse effects...
2022: Therapeutic Advances in Chronic Disease
https://read.qxmd.com/read/35860754/whole-body-whole-life-whole-family-patients-perspectives-on-x-linked-hypophosphatemia
#14
REVIEW
Amber A Hamilton, Susan Faitos, Gin Jones, Athina Kinsley, Rupal Naik Gupta, E Michael Lewiecki
The rare genetic disorder X-linked hypophosphatemia (XLH) is often exclusively considered to impact children, and, as such, adult patients with XLH may receive inadequate care because their symptoms are not associated with XLH. However, studies have shown that XLH has long-term adverse health consequences that continue throughout adulthood requiring comprehensive lifelong care. Indeed, XLH impacts patients' whole body, whole life, and whole family. XLH does not just affect the bones; symptoms are chronic and progressive, worsening throughout adulthood, and the burden of XLH overflows into the lives of a patient's family, friends, peers, and colleagues...
August 1, 2022: Journal of the Endocrine Society
https://read.qxmd.com/read/35689455/clinical-spectrum-of-hereditary-hypophosphatemic-rickets-with-hypercalciuria-hhrh
#15
JOURNAL ARTICLE
Julian Stürznickel, Fiona Heider, Alena Delsmann, Markus Gödel, Johannes Grünhagen, Tobias B Huber, Uwe Kornak, Michael Amling, Ralf Oheim
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic variants in the solute carrier family 34-member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an increased risk for nephrocalcinosis and rickets/osteomalacia, muscular weakness, and secondary limb deformity. Biochemical changes, but no relevant skeletal changes, have been reported for heterozygous SLC34A3 carriers. Therefore, we assessed the characteristics of individuals with biallelic and monoallelic SLC34A3 variants...
August 2022: Journal of Bone and Mineral Research
https://read.qxmd.com/read/35718359/x-linked-kidney-disorders-in-women
#16
REVIEW
Catherine Quinlan, Michelle N Rheault
A number of genes that cause inherited kidney disorders reside on the X chromosome. Given that males have only a single active X chromosome, these disorders clinically manifest primarily in men and boys. However, phenotypes in female carriers of X-linked kidney conditions are becoming more and more recognized. This article reviews the biology of X inactivation as well as the kidney phenotype in women and girls with a number of X-linked kidney disorders including Alport syndrome, Fabry disease, nephrogenic diabetes insipidus, X-linked hypophosphatemic rickets, Dent disease, and Lowe syndrome...
March 2022: Seminars in Nephrology
https://read.qxmd.com/read/35426466/clinical-practice-guidelines-for-paediatric-x-linked-hypophosphataemia-in-the-era-of-burosumab
#17
JOURNAL ARTICLE
Jessica L Sandy, Peter J Simm, Andrew Biggin, Christine P Rodda, Christie-Lee Wall, Aris Siafarikas, Craig F Munns
X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life. The overarching aims in the management of children with XLH are to improve quality of life by reducing overall burden of disease, optimise an individual's participation in daily activities and promote normal physical and psychological development...
May 2022: Journal of Paediatrics and Child Health
https://read.qxmd.com/read/35352187/rickets-guidance-part-ii-management
#18
JOURNAL ARTICLE
Dieter Haffner, Maren Leifheit-Nestler, Andrea Grund, Dirk Schnabel
Here, we discuss the management of different forms of rickets, including new therapeutic approaches based on recent guidelines. Management includes close monitoring of growth, the degree of leg bowing, bone pain, serum phosphate, calcium, alkaline phosphatase as a surrogate marker of osteoblast activity and thus degree of rickets, parathyroid hormone, 25-hydroxyvitamin D3 , and calciuria. An adequate calcium intake and normal 25-hydroxyvitamin D3 levels should be assured in all patients. Children with calcipenic rickets require the supplementation or pharmacological treatment with native or active vitamin D depending on the underlying pathophysiology...
October 2022: Pediatric Nephrology
https://read.qxmd.com/read/35101067/potential-influences-on-optimizing-long-term-musculoskeletal-health-in-children-and-adolescents-with-x-linked-hypophosphatemia-xlh
#19
REVIEW
Francis H Glorieux, Lynda F Bonewald, Nicholas C Harvey, Marjolein C H van der Meulen
In recent years, much progress has been made in understanding the mechanisms of bone growth and development over a lifespan, including the crosstalk between muscle and bone, to achieve optimal structure and function. While there have been significant advances in understanding how to help improve and maintain bone health in normal individuals, there is limited knowledge on whether these mechanisms apply or are compromised in pathological states. X-linked hypophosphatemia (XLH) (ORPHA:89936) is a rare, heritable, renal phosphate-wasting disorder...
January 31, 2022: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/35055123/cellular-and-molecular-alterations-underlying-abnormal-bone-growth-in-x-linked-hypophosphatemia
#20
REVIEW
Rocío Fuente, María García-Bengoa, Ángela Fernández-Iglesias, Helena Gil-Peña, Fernando Santos, José Manuel López
X-linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets, is caused by inactivating mutations of the phosphate-regulating endopeptidase gene (PHEX). XLH is mainly characterized by short stature, bone deformities and rickets, while in hypophosphatemia, normal or low vitamin D levels and low renal phosphate reabsorption are the principal biochemical aspects. The cause of growth impairment in patients with XLH is not completely understood yet, thus making the study of the growth plate (GP) alterations necessary...
January 15, 2022: International Journal of Molecular Sciences
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