“…The pediatrician diagnosed rickets in the four-year-old. However, chest x-rays were normal in all and long bone x-rays showed minimal changes in one child – no sign of rickets. …”
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“…The present study evaluated the efficacy and safety of Phosribbon(®) in 16 patients with hereditary hypophosphatemic rickets. The optimal dosage and an administration pattern were also investigated. …”
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“…OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphatemic rickets/osteomalacia. …”
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“…Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR), a rare recessive disease, is caused by mutation in the VDR gene encoding the vitamin D receptor leading to the resistance to vitamin D. …”
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“…Inactivating mutations in phosphate-regulating gene with homologies to endopeptidase on the X chromosome (PHEX) have been identified as a cause of X-linked hypophosphatemic rickets (XLH; OMIM 307800). In the present study, we enrolled 43 patients from 18 unrelated families clinically diagnosed with hypophosphatemic rickets and 250 healthy controls. …”
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“…Nutritional or classical rickets (here labeled as “rickets”) is a worldwide disease involving mostly infants and young children having inadequate sunlight exposure, often associated with a low dietary intake of Vitamin D. …”
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“…OBJECTIVE: Stoss vitamin D treatment has been recommended for its non-skeletal benefits in adults, but there is a lack of data on the optimal dose of vitamin D stoss therapy in children with vitamin D deficiency/insufficiency without rickets. This study aimed to compare efficiency/side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) administered in children with vitamin D deficiency/insufficiency without rickets. …”
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“…The commonest cause of rickets worldwide is vitamin D deficiency, but studies from sub‐Saharan Africa describe an endemic vitamin D‐independent form that responds to dietary calcium enrichment. …”
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“…Vitamin D-dependent rickets type II is a rare hereditary disorder. It occurs due to mutations in the gene chr. 12q12-q14, which codes for vitamin D receptor. …”
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“…As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis. …”
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“…Introduction. Rickets is softening of bones caused by defective mineralization of the cartilage in the epiphyseal growth plate, causing widening of the ends of long bones, growth retardation, and skeletal deformities in children. …”
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“…Hypocalcaemia associated with increased 1,25-vitamin D(3) was consistent with vitamin D(3)-dependent rickets type II. The bone appearance on CT scan was most consistent with the changes typically seen with nutritional secondary hyperparathyroidism and less typical of the changes seen with rickets. …”
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“…X‑linked hypophosphatemic rickets (XLH, OMIM #307800) is a rare genetic metabolic disorder caused by dysregulation of fibroblast-like growth factor 23 (FGF23) leading to profound reduction in renal phosphate reabsorption. …”
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“…Introduction Autosomal dominant hypophosphatemic rickets (ADHR) is a condition with variable phenotype in terms of age of presentation, severity, and possible resolution. …”
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“…X-linked hypophosphatemic rickets (XLH) is an inherited disorder that results from an inactivating mutation of the PHEX gene. …”
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