“…Vitamin D‐dependent rickets type 1 (VDDRIA) is an autosomal recessive disorder caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene, which encodes for the enzyme 1 alpha‐hydroxylase. …”
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“…Vitamin D deficiency can result in nutritional rickets, which may present with impaired growth, weakened bones, dental abnormalities, and fractures secondary to decreased calcium absorption. …”
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“…Clinically, HPP presents as a severe lack of bone mineralization leading to a rickets-like presentation. Clinical Case: A 4-month-old female presented from an outside hospital for the ongoing care of perinatal HPP. …”
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“…Further investigations are warranted to assess to what extent iron supplementation can prevent FGF23-mediated hypophosphatemic rickets or osteomalacia.…”
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“…In addition, the Sr concentration in drinking water was positively correlated with the incidence of children’s rickets (r = 0.411), while the Ca/Br ratio was negatively correlated with the incidence of children’s rickets (r = − 0.410). …”
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“…A state of prolonged or profound vitamin D deficiency (VDD) can result in rickets in children and osteomalacia in children and adults. …”
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“…Historically, food fortification has served as a tool to address population-wide nutrient deficiencies such as rickets by vitamin D fortified milk. This article discusses the different policy strategies to be used today. …”
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“…Vitamin D is integral for bone health, and severe deficiency can cause rickets in children and osteomalacia in adults. Although osteomalacia can cause severe generalized bone pain, there are only a few case reports of chest pain associated with vitamin D deficiency. …”
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“…In 1957 Sakai and Kitagawa in Japan reported the clinical and biochemical findings in a patient with tyrosinemia, tyrosyluria, liver cirrhosis, and renal rickets. Subsequently, reports were published from various countries of other patients with hepatorenal tyrosinemia (HRT). 4-Hydroxyphenylpyruvate dioxygenase deficiency was originally proposed as the cause of HRT. …”
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“…Without the presence of this mineral in high enough quantities, chondrocytes will not go into apoptosis, and the normal physiological chain of events that includes invasion of blood vessels and the generation of new bone will be blocked, resulting in rickets and delayed growth. In the rest of the skeleton, hypophosphatemia will result in osteomalacia due to an insufficient formation of hydroxyapatite. …”
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“…Fibroblast growth factor 23 (FGF23) was recently identified as an important factor involved in the development of hypophosphatemic rickets and osteomalacia. We experienced a rare case of acute prosthesis migration after hemihip arthroplasty due to FGF23-induced tumor. …”
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“…Low vitamin D levels have long been associated with bone diseases, such as rickets in children and osteomalacia and osteoporosis in adults. …”
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“…Hypophosphatasia (HPP) results from ALPL mutations leading to deficient activity of the tissue-non-specific alkaline phosphatase isozyme (TNAP) and thereby extracellular accumulation of inorganic pyrophosphate (PP(i)), a natural substrate of TNAP and potent inhibitor of mineralization. Thus, HPP features rickets or osteomalacia and hypomineralization of teeth. …”
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“…Here, we present a case of a boy with poor linear growth, mild limb bowing, and radiographic rickets who was diagnosed with HPP before 6 months of age. …”
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“…These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.…”
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“…Fortification of food products with vitamin D was central to the eradication of rickets in the early parts of the 20th century in the United States. …”
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“…In this study, we show that both VDR ligands restore the transcriptional activities of VDR variants unresponsive to the natural ligand and identified in patients with rickets. The elucidated mechanisms of action underlying the activities of these C-20-modified analogs emphasize the mutual adaptation of the ligand and the VDR ligand-binding pocket.…”
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“…Our review briefly introduced the metabolic process of VitD, summarized the role of VitD in paediatric diseases such as autism, obesity, rickets and asthma. We sought to identify the link between VitD deficiency and these diseases.…”
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“…Pneumonia (54.8%), diarrhea (41.8%) and rickets (21.4%) were co-morbidities which affected SAM children. …”
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“…Rickets resulted from defective endocrine control of blood calcium, and was accompanied by epidemic tuberculosis from failure of the D3-dependent first-line immune system. …”
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