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881por Uday, Suma, Fratzl-Zelman, Nadja, Roschger, Paul, Klaushofer, Klaus, Chikermane, Ashish, Saraff, Vrinda, Tulchinsky, Ted, Thacher, Tom D., Marton, Tamas, Högler, Wolfgang“…They all had low serum levels of 25 hydroxyvitamin D (25OHD < 15 nmol/L), and elevated parathyroid hormone (PTH; 219–482 ng/L) and alkaline phosphatase (ALP; 802–1123 IU/L), with undiagnosed rickets on radiographs. One infant died from cardiac arrest. …”
Publicado 2018
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882“…Overproduction of FGF23 (fibroblast growth factor 23) secreted by bone lesions has been recently reported to be responsible for hypophosphatemic vitamin D-resistant rickets in this disease. This study aimed to analyze the GNAS1 gene in bone lesions of MAS and to investigate the expression patterns of FGF23 protein. …”
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883por DeLacey, Sean, Liu, Ziyue, Broyles, Andrea, El-Azab, Sarah, Guandique, Cristian, James, Benjamin, Imel, Erik“…X-linked hypophosphatemia, due to PHEX mutations results in elevated fibroblast growth factor 23, hypophosphatemia and rickets/osteomalacia. Conventional therapy requires high doses of phosphate salts combined with active vitamin D analogues. …”
Publicado 2019
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884“…Background: X-linked hypophosphatemia (XLH) causes rickets in children and osteomalacia in adults due to lifelong renal phosphate wasting that is mediated by high circulating levels of FGF-23. …”
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885por Fujisawa, Yasuko, Kitaoka, Taichi, Ono, Hiroyuki, Nakashima, Shinichi, Ozono, Keiichi, Ogata, Tsutomu“…Initial therapy from the age of 37 days to the age of 58 days substantially improved rickets signs in the patient; it also provided immediate normalization of serum calcium and ionic phosphate levels. …”
Publicado 2020
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886por Guo, Yue, Zhou, Ying-Hui, Wu, Xian-Ping, Tang, Chen-Yi, Wang, Min, Mo, Zhao-Hui, Shepherd, John A, Ng, Bennett K, Fan, Bo, Zhou, Hou-De“…RESULTS: The diagnoses of 21 HO patients were 5 cases of hereditary hypophosphatemic rickets, 4 cases of Fanconi syndrome with the features of renal tubular acidosis and vitamin D deficiency, and 12 cases of hereditary vitamin D abnormality. …”
Publicado 2021
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887por Rush, Eric T., Johnson, Britt, Aradhya, Swaroop, Beltran, Daniel, Bristow, Sara L., Eisenbeis, Scott, Guerra, Norma E., Krolczyk, Stan, Miller, Nicole, Morales, Ana, Ramesan, Prameela, Sarafrazi, Soodabeh, Truty, Rebecca, Dahir, Kathryn“…X‐linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic variants in the PHEX gene, affects both sexes of all ages and results in elevated serum fibroblast growth factor 23 (FGF23) and below‐normal serum phosphate. In XLH, rickets, osteomalacia, short stature, and lower limb deformity may be present with muscle pain and/or weakness/fatigue, bone pain, joint pain/stiffness, hearing difficulty, enthesopathy, osteoarthritis, and dental abscesses. …”
Publicado 2021
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888por Brandi, Maria Luisa, Ariceta, Gema, Beck-Nielsen, Signe Sparre, Boot, Annemieke M., Briot, Karine, de Lucas Collantes, Carmen, Emma, Francesco, Giannini, Sandro, Haffner, Dieter, Keen, Richard, Levtchenko, Elena, Mӓkitie, Outi, Nilsson, Ola, Schnabel, Dirk, Tripto-Shkolnik, Liana, Zillikens, M. Carola, Liu, Jonathan, Tudor, Alina, Mughal, M. Zulf“…Disease characteristics include rickets, osteomalacia, odontomalacia, and short stature. …”
Publicado 2022
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889por Ashebir, Yohannes Godie, Sebsibe, Girum Teshome, Gela, Debela, Kebede, Mekonen Adimasu“…BACKGROUND: Sunlight exposure helps the body produce vitamin D, prevents rickets and is used for neonatal jaundice treatment. …”
Publicado 2022
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890por Al-Daghri, Nasser M., Sabico, Shaun, Wani, Kaiser, Hussain, Syed Danish, Yakout, Sobhy, Aljohani, Naji, Uday, Suma, Högler, Wolfgang“…Interpreting these data in the light of the increased prevalence of rickets in Arab countries, food fortification to optimise vitamin D and Ca intake in Saudi adolescents should be considered.…”
Publicado 2023
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891por Dharmaraj, Poonam, Burren, Christine, Cheung, Moira, Padidela, Raja, Mughal, Zulf, Shaw, Nick, Saraff, Vrinda, Nadar, Ruchi, Randell, Tabitha, Mushtaq, Talat, Ramakrishnan, Renuka, Sennipathan, Senthil, Sakka, Sophia, Bath, Louise, Elleri, Daniela, Davies, Justin, Tucker, Ian, Arundel, Paul, Gilbey-Cross, Robyn, Tothill, Alexander, Connor, Paul, Mathieson, Leigh“…Objectives X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralization of bone:rickets leading in turn to a spectrum of skeletal abnormalities, physical impairment, weakness, and pain. …”
Publicado 2019
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892“…Conclusion: Ferric carboxymaltose can cause profound phosphaturia and hypophosphatemia by inhibiting the cleavage of intact FGF23 to the inactive form, a mechanism similar to autosomal dominant hypophosphatemic rickets. Previous clinical trials show the incidence of hypophosphatemia to be as high as 41-70%. …”
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893por Lecoq, Anne-Lise, Trabado, Séverine, Schilbach, Katharina, Rothenbuhler, Anya, Barosi, Anna, Debza, Yahya, Linglart, Agnes, Bidlingmaier, Martin, Kamenicky, Peter“…Subjects: Patients were adult subjects with XLH, defined as hypophosphatemia due to renal phosphate wasting with either documented PHEX mutation (92%) and/or family history of rickets. Healthy controls were selected among adult participants of the AcroCut cohort and matched for sex, age and body mass index (BMI). …”
Publicado 2020
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894por Äärelä, Linnea, Hiltunen, Pauliina, Soini, Tea, Vuorela, Nina, Huhtala, Heini, Nevalainen, Pasi I., Heikinheimo, Markku, Kivelä, Laura, Kurppa, Kalle“…Four patients were detected through screening and 18 clinically, their main findings being liver failure (50% vs. 100%, respectively, p = 0.026), ascites (0% vs. 53%, p = 0.104), renal tubulopathy (0% vs. 65%, p = 0.035), rickets (25% vs. 65%, p = 0.272), growth failure (0% vs. 66%, p = 0.029), thrombocytopenia (25% vs. 88%, p = 0.028) and anaemia (0% vs. 47%, p = 0.131). …”
Publicado 2020
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895por Padidela, Raja, Whyte, Michael P., Glorieux, Francis H., Munns, Craig F., Ward, Leanne M., Nilsson, Ola, Portale, Anthony A., Simmons, Jill H., Namba, Noriyuki, Cheong, Hae Il, Pitukcheewanont, Pisit, Sochett, Etienne, Högler, Wolfgang, Muroya, Koji, Tanaka, Hiroyuki, Gottesman, Gary S., Biggin, Andrew, Perwad, Farzana, Williams, Angela, Nixon, Annabel, Sun, Wei, Chen, Angel, Skrinar, Alison, Imel, Erik A.“…Changing to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved phosphorus homeostasis, rickets, lower-extremity deformities, mobility, and growth versus continuing oral phosphate and active vitamin D (conventional therapy) in a randomized, open-label, phase 3 trial involving children aged 1–12 years with X-linked hypophosphatemia. …”
Publicado 2021
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896por Muszyński, Siemowit, Świątkiewicz, Małgorzata, Szymczyk, Beata, Oczkowicz, Maria, Furgał-Dzierżuk, Iwona“…The deficiencies of this vitamin in children, adolescents and young women are observed, causing the rickets or bone fragility. As the increasingly limited role of obtaining vitamin D3 from the sun exposure, supplementation of food sources becomes particularly important. …”
Publicado 2021
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897“…In humans, rare homozygous loss of ENPP1 leads to generalized arterial calcification of infancy (GACI), characterized by vascular, joint, and organ calcification, hypophosphatemic rickets/osteomalacia, and skin and retinal findings. …”
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898por Jansson, Désirée Seger, Otman, Faruk, Bagge, Elisabeth, Lindgren, Ylva, Etterlin, Pernille Engelsen, Eriksson, Helena“…Nutritional or management-related diseases were diagnosed in 14.2% of all birds including rickets and gastrointestinal impaction/obstruction. …”
Publicado 2021
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899por Jin, C., Zhang, C., Ni, X., Zhao, Z., Xu, L., Wu, B., Chi, Y., Jiajue, R., Jiang, Y., Wang, O., Li, Mei, Xing, X., Meng, X., Xia, W.“…The results suggested that a dose of 40 ng/kg/day calcitriol, compared with 20 ng/kg/day, was more effective in relieving the rickets, with similar safety outcomes. Further investigations were expected to set more dose groups. …”
Publicado 2022
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900por Lafage-Proust, Marie-Hélène“…X-linked hypophosphatemia (XLH) is a genetic disease mostly related to PHEX gene mutations which increases FGF23 serum levels, leading to hypophosphatemia and osteomalacia in adults, while affected children, in addition, develop rickets. Most of adults with XLH suffer from reduced quality of life and physical disability due to chronic bone and joint pain related to limb deformities, early osteoarthritis, delayed-healing of insufficiency fractures, and enthesopathies. …”
Publicado 2022
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