“…This comprehensive historical review provides a unique perspective of the many steps of the discovery of vitamin D and its deficiency disease, rickets, stretching from 1650 until the present. The overview is divided into four distinct historical phases which cover the major developments in the field and in the process highlighting the: (a) first recognition of rickets or vitamin D deficiency; (b) discovery of the nutritional factor, vitamin D and its chemical structure; (c) elucidation of vitamin D metabolites including the hormonal form, 1,25-dihydroxyvitamin D(3); (d) delineation of the vitamin D cellular machinery, functions and vitamin D-related diseases which focused on understanding the mechanism of action of vitamin D in its many target cells.…”
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“…In earlier times they had problems with rickets but our studies did not show any essential symptoms of rickets today. …”
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“…It is the most common form of familial hypophosphatemic rickets (vitamin D-resistant rickets) [1]. XLH causes bone deformity including short stature, bowed legs, and osteomalacia. …”
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“…Administration of 25(OH)D(3) reversed rickets symptoms in Cyp27b1-KO and Vdr (R270L) rats. …”
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“…Of the 15 patients (9.5%) where no PHEX variant was found, one had a P variant in FGF23 (autosomal dominant hypophosphatemic rickets molecular diagnosis) and another had P and LP variants in ENPP1 (autosomal recessive hypophosphatemic rickets Type 2 molecular diagnosis). …”
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“…XLH is characterized by rickets and osteomalacia leading to bone pain, skeletal deformities, and short stature. …”
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“…It is well-established that prolonged and severe vitamin D deficiency leads to rickets in children and osteomalacia in adults. Sub-optimal vitamin D status has been reported in many populations but it is a particular concern in older people; thus there is clearly a need for effective strategies to optimise bone health. …”
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“…Skeleton radiographs detected generalized dense bone and rickets. Cerebral CT scan revealed hydrocephalus. …”
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“…Excessive actions of FGF23 cause several kinds of hypophosphatemic rickets/osteomalacia. Tumor-induced rickets/osteomalacia (TIO) is a paraneoplastic syndrome caused by overproduction of FGF23 from the responsible tumors. …”
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“…Patient: Female, 2 Final Diagnosis: Hepatic rickets Symptoms: Pain Medication: — Clinical Procedure: Skeletal survey Specialty: Pediatrics and Neonatology OBJECTIVE: Rare disease BACKGROUND: All medical practitioners must be vigilant for child abuse and neglect (CAN) so that opportunities to intervene, prevent, and improve outcomes are not missed. …”
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“…The diagnosis should be considered when a patient presents with low phosphate and osteomalacia or rickets and should be differentiated from other disorders of phosphate metabolism such as X-linked, autosomal dominant and recessive hypophosphatemic rickets, and acquired cause like vitamin D deficiency. …”
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“…INTRODUCTION: Fanconi–Bickel syndrome (FBS) is a rare genetic condition characterized by extremely short stature, renal tubular dysfunction, osteoporosis, and rickets. The literature is scant regarding the successful reproduction of women with FBS. …”
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“…It was the deficiency of sunlight causing the devastating skeletal disease known as English disease and rickets that provided the first insight as to the relationship of sunlight and the cutaneous production of vitamin D(3). …”
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“…SUMMARY: AIM-OBJECTIVE: Vitamin D deficiency and rickets in developing countries continues to be a major health problem. …”
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“…Increases in fibroblastic growth factor 23 (FGF23 or Fgf23) production by osteocytes result in hypophosphatemia and rickets in the Hyp mouse homologue of X-linked hypophosphatemia (XLH). …”
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“…INTRODUCTION: X-linked hypophosphataemic rickets/osteomalacia (XLH) is a chronic, debilitating genetic disease characterised by skeletal abnormalities and growth disorder. …”
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“…Both patients had no genetic mutation related to hereditary FGF23-related hypophosphatemic rickets/osteomalacia, including autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR). …”
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“…Thus, these results indicate that relatively low levels of 25OHD can cause rickets, a symptom of vitamin D deficiency, and that clinicians should therefore carefully evaluate the levels of 25OHD.…”
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“…Dent–Wrong disease, an X-linked recessive disorder of the proximal tubules, presents with hypercalciuria, nephrocalcinosis, nephrolithiasis, renal insufficiency, low-molecular-weight proteinuria, rickets and/or osteomalacia. Dent and Friedman initially characterized the disorder in 1964 following studies of two patients with rickets who presented with hypercalciuria, hyperphosphaturia, proteinuria and aminoaciduria. …”
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“…It is mostly seen in young children with metabolic bone diseases (such as rickets) and may lead to leg length discrepancy (LLD) and Degenerative scoliosis (DS) in older age. …”
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