Search Results

You are looking at 1 - 10 of 18 items for :

Clear All
Open access

Vickie Braithwaite, Kerry S Jones, Shima Assar, Inez Schoenmakers and Ann Prentice

Introduction Elevated plasma C-terminal fibroblast growth factor 23 (C-FGF23) concentrations have been recorded in Gambian children with putative Ca-deficiency rickets (1) and, at a lower prevalence, in apparently healthy children from the local

Open access

Agnès Linglart, Martin Biosse-Duplan, Karine Briot, Catherine Chaussain, Laure Esterle, Séverine Guillaume-Czitrom, Peter Kamenicky, Jerome Nevoux, Dominique Prié, Anya Rothenbuhler, Philippe Wicart and Pol Harvengt

Introduction Phosphate wasting ineluctably leads to hypophosphatemia and numerous consequences including mineralization defects. In children, hypophosphatemia is revealed by vitamin D-resistant rickets and results in variable degrees of delayed

Open access

Suma Uday, Ardita Kongjonaj, Magda Aguiar, Ted Tulchinsky and Wolfgang Högler

Introduction Vitamin D deficiency and its complications such as osteomalacia, rickets, hypocalcaemic seizures, dilated cardiomyopathy and skeletal myopathy are a growing concern worldwide in high-, medium- and low-income countries regardless

Open access

A Gizard, A Rothenbuhler, Z Pejin, G Finidori, C Glorion, B de Billy, A Linglart and P Wicart

Introduction X-linked hypophosphatemic rickets (XLHR) is the most frequent cause of genetic and heritable rickets. It is caused by mutations damaging the function of the endopeptidase encoded by the PHEX gene located on the X chromosome ( 1

Open access

Volha V Zhukouskaya, Anya Rothenbuhler, Annamaria Colao, Carolina Di Somma, Peter Kamenický, Séverine Trabado, Dominique Prié, Christelle Audrain, Anna Barosi, Christèle Kyheng, Anne-Sophie Lambert and Agnès Linglart

typical radiographic changes of rickets ( 1 ). Current medical treatment consisting of oral active vitamin D (calcitriol or 1α-(OH)D 3 ) and multiple daily phosphate supplementation partially restores clinical, biochemical, and radiographic signs of

Open access

Stefan Pilz, Armin Zittermann, Christian Trummer, Verena Theiler-Schwetz, Elisabeth Lerchbaum, Martin H Keppel, Martin R Grübler, Winfried März and Marlene Pandis

Introduction Vitamin D is critical for bone and mineral metabolism and is effective in the prevention and treatment of rickets and osteomalacia ( 1 , 2 , 3 , 4 , 5 ). Given that vitamin D receptors (VDRs) are expressed in almost every

Open access

Monika Bilic, Huma Qamar, Akpevwe Onoyovwi, Jill Korsiak, Eszter Papp, Abdullah Al Mahmud, Rosanna Weksberg, Alison D Gernand, Jennifer Harrington and Daniel E Roth

metabolite of vitamin D ( 20 , 21 ). In a study of children with nutritional rickets, vitamin D supplementation increased serum IGF-I and IGFBP-3 and resulted in accelerated linear growth, suggesting that the treatment of poor growth associated with rickets

Open access

R Perchard, L Magee, A Whatmore, F Ivison, P Murray, A Stevens, M Z Mughal, S Ehtisham, J Campbell, S Ainsworth, M Marshall, M Bone, I Doughty and P E Clayton

Ozono K Michigami T Tiosano D Mughal MZ Mäkitie O Global consensus recommendations on prevention and management of nutritional rickets . Journal of Clinical Endocrinology & Metabolism 2016 101 394 – 415 . 4 Munns CF Shaw

Open access

Ravikumar Shah, Anurag R Lila, Ramteke-Swati Jadhav, Virendra Patil, Abhishek Mahajan, Sushil Sonawane, Puja Thadani, Anil Dcruz, Prathamesh Pai, Munita Bal, Subhada Kane, Nalini Shah and Tushar Bandgar

:female ratio is reported in head and neck TIO patients ( 3 ). Middle age is the most common age at presentation and three pediatric cases are reported so far. TIO is a difficult diagnosis in pediatric patients as heritable hypophosphatemic rickets is a more

Open access

Changwei Liu, Jingwen Wang, Yuanyuan Wan, Xiaona Xia, Jian Pan, Wei Gu and Mei Li

. ( https://doi.org/10.6065/apem.2018.23.1.21 ) 12 Munns CF Shaw N Kiely M Specker BL Thacher TD Ozono K Michigami T Tiosano D Mughal MZ Mäkitie O , et al . Global Consensus Recommendations on Prevention and Management of Nutritional Rickets . Journal