"Rickets"

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                            1
                            2019BMJ Best Practice
                            Rickets Rickets - Symptoms, diagnosis and treatment | BMJ Best PracticeSkip to main contentSkip to search * About us * Help * Subscribe * Access through your institution * Log inBMJ Best Practice * Help * Getting started * FAQs * Contact us * Recent updates * Specialties * Calculators * Patient leaflets * Videos * Evidence * Drugs * Recent updates * Specialties * Calculators , typically causing bowed legs and thickening of the ends of long bones.Rickets only occurs in growing children before fusion of the epiphyses, and typically affects the wrists, knees, and costochondral junctions.Rickets occurs primarily as a result of a nutritional deficiency of vitamin D, but can be associated with nutritional deficiencies of calcium or phosphorus. Hypophosphataemic rickets is a common
                            2
                            2021Indian Clinical Guidelines
                            Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets The emerging literature on prevalence of vitamin D deficiency in India, prevention and treatment strategies of rickets, and extra-skeletal benefits of vitamin D suggest the need for revising the existing guidelines for prevention and treatment of vitamin D deficiency in India . To review the emerging literature on vitamin D prevalence and need for universal vitamin D supplementation. To suggest optimum vitamin D therapy for treatment of asymptomatic and symptomatic vitamin D deficiency, and rickets. To evaluate the extra-skeletal health benefits of vitamin D in children. A National consultative committee was formed that comprised of clinicians, epidemiologists, endocrinologists
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                            3
                            2023BMC Pediatrics
                            Nutritional rickets presenting with developmental regression: a rare presentation of rickets. Rickets is a disorder of defective mineralisation of the growth plate. Vitamin D deficiency remains the leading cause of nutritional rickets worldwide.We present the case of a 3.5-year-old breastfed boy who presented with dental abscess when a history of developmental regression was noted. Clinical assessment revealed hypotonia, poor growth and stunting. Biochemistry identified hypocalcaemia (1.63mmol/L, [normal range (NR) 2.2-2.7mmol/L]), severe vitamin D deficiency (25hydroxyvitamin D 5.3nmol/L, [NR > 50nmol/L]) with secondary hyperparathyroidism (Parathormone 159pmol/L, [NR 1.6-7.5pmol/L]) and rickets on radiographs. Growth failure screening suggested hypopituitarism with central hypothyroidism
                            4
                            2018BMJ Best Practice
                            Rickets Rickets - Symptoms, diagnosis and treatment | BMJ Best PracticeSkip to main contentSkip to search * About us * Help * Subscribe * Access through your institution * Log inBMJ Best Practice * Help * Getting started * FAQs * Contact us * Recent updates * Specialties * Calculators * Patient leaflets * Videos * Evidence * Drugs * Recent updates * Specialties * Calculators , typically causing bowed legs and thickening of the ends of long bones.Rickets only occurs in growing children before fusion of the epiphyses, and typically affects the wrists, knees, and costochondral junctions.Rickets occurs primarily as a result of a nutritional deficiency of vitamin D, but can be associated with nutritional deficiencies of calcium or phosphorus. Hypophosphataemic rickets is a common
                            5
                            2024BMC Pediatrics
                            Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria. Hereditary hypophosphatemia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Here, we present a case of HHRH in a Chinese boy. We report a 11-year-old female proband
                            6
                            2024Kidney International
                            An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Pathogenic variants in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Here, we report a pooled analysis
                            7
                            Characterization of novel PHEX variants in X-linked hypophosphatemic rickets and genotype-PHEX activity correlation. X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by phosphate regulating endopeptidase homolog X-linked (PHEX) gene mutation. At present, the genotype-phenotype relationship of XLHR and the pathogenic role of PHEX found that patients with low PHEX activity tended to have severe hypophosphatemia and high rickets severity score (RSS). Following this observation, we established two new knock-in XLHR mouse models with two novel Phex variants (c.T1349C and c.C426G, respectively) using CRISPR/Cas9 technology. Both mouse models demonstrated clinical manifestations of XLHR seen in patients and PhexC426G mice showed
                            8
                            Hypophosphatemic Rickets and Short Stature. An 18-month old male presented with gross motor delay and poor growth (weight z-score -2.21, length z-score -4.26). Radiographs showed metaphyseal irregularities suggesting metaphyseal dysplasia and sagittal craniosynostosis. Biochemical evaluation revealed evidence of hypophosphatemic rickets [serum phosphorus 2.3 mg/dL (reference range (RR) 4.3-6.8 hypophosphatemic rickets (ADHR). Consistent with reports linking iron deficiency with the ADHR phenotype, low ferritin was detected, 18 ng/mL (RR 24-336). Oral ferrous sulfate replacement was initiated. Following normalization of ferritin level (41 ng/mL) biochemical improvement was demonstrated (FGF23 69 RU/mL, phosphorus 5.0 mg/dL and alkaline phosphatase 228 unit/L). Calcitriol and phosphate were discontinued
                            9
                            2024Poultry science
                            Early manifestation of hypophosphatemic rickets in goslings: a potential role of insufficient muscular adenosine triphosphate in motility impairment of early P-deficient geese. We aimed to determine the onset time of hypophosphatemic rickets and investigate the mechanism of motility impairment through adenosine triphosphate (ATP) production in goslings. Two hundred and sixteen 1-day-old male and drinking frequencies on d 7 and 11 (P < 0.01). Bone stiffness, feather cleanliness, and ATP levels recovered (P > 0.05) to the control level, whereas bone size did not recover (P < 0.05) in PD and HP after eating the control diet for 2 wk. The onset time of hypophosphatemic rickets was around 4 d in goslings, and insufficient leg muscle ATP was related to the impaired motility observed in early P
                            10
                            CYP4A22 Loss-of-Function Causes A New Type of Vitamin D-dependent Rickets (VDDR1C). Vitamin D dependent rickets (VDDR) is a group of genetic disorders characterized by early-onset rickets due to deficiency of active vitamin D or a failure to respond to activated vitamin D. VDDR is divided into several subtypes according to the corresponding causative genes. Here we described a new type
                            11
                            2024Pediatrics
                            Maternal Vitamin D Supplementation and Infantile Rickets: Secondary Analysis of a Randomized Trial. The role of maternal vitamin D supplementation in the prevention of infantile rickets is unknown, particularly in low- and middle-income countries without routine infant vitamin D supplementation. Through secondary analysis of a randomized, placebo-controlled trial in Bangladesh, we examined the dose-ranging effects of maternal vitamin D supplementation on the risk of biochemical rickets at 6 to 12 months of age. Pregnant women (n = 1300) were randomized into 5 groups: placebo, or vitamin D 4200 IU/week, 16 800 IU/week, or 28 000 IU/week from second trimester to delivery and placebo until 6 months postpartum; or 28 000 IU/week prenatally and until 6 months postpartum. Infants underwent
                            12
                            2024Kidney International
                            Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine. Hereditary hypophosphatemic rickets with hypercalciuria is an autosomal recessive phosphate-wasting disorder, associated with kidney and skeletal pathologies, which is caused by pathogenic variants of SLC34A3. In this issue, Zhu et al. describe a pooled analysis of 304 individuals carrying SLC34A3 variants. Their study underscores the complexity of hereditary hypophosphatemic rickets with hypercalciuria, as kidney and bone phenotypes generally do not coexist, heterozygous carriers of SLC34A3 variants also can be affected, and the response to oral phosphate supplementation is dependent on the genetic status.
                            13
                            RNA-First Approach Identifies Deep Intronic PHEX Variants in X-Linked Hypophosphatemic Rickets. Up to 20% of patients with X-linked hypophosphatemic rickets (XLH) have no causative variant identified on routine molecular diagnostic testing. To identify intronic variants causing PHEX mis-splicing in patients with XLH. The metabolic bone clinic of a paediatric orthopedic hospital. Four patients
                            14
                            2018FDA - Drug Approval Package
                            Burosumab-twza (Crysvita) - To treat adults and children ages 1 year and older with x-linked hypophosphatemia (XLH), a rare, inherited form of rickets Drug Approval Package: CRYSVITA (burosumab-twza) * Skip to main page content * Skip to search * Skip to topics menu * Skip to common linksHHS U.S. Department of Health and Human Services U.S. Food and Drug Administration * Follow FDA * En
                            15
                            Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease. Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disease associated with loss-of-function variations in the gene encoding the vitamin D-activating enzyme 1α-hydroxylase (CYP27B1). Phenotype-genotype correlation is unclear. Long-term outcome data are lacking
                            16
                            Serum 1,25-dihydroxyvitamin D levels in the diagnosis and pathogenesis of nutritional rickets - a multivariable re-analysis of a case-control study. A multivariable logistic regression model resulting from a case-control study of nutritional rickets in Nigerian children suggested that higher levels of serum 25-hydroxyvitamin D [25(OH)D] may be required to prevent nutritional rickets in populations with low calcium intakes. This current study evaluates if adding serum 1,25-dihydroxyvitamin D (1,25(OH)D) to that model shows that increased levels of serum 1,25(OH)D are independently associated with the risk of children on low-calcium diets having nutritional rickets. Multivariable logistic regression analysis was used to model the association between serum 1,25(OH)D and the risk of having
                            17
                            Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1). Autosomal recessive hypophosphatemic rickets (ARHR) are rare, heritable renal phosphate-wasting disorders that arise from overexpression of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23) leading to impaired bone mineralization (rickets and osteomalacia). Inactivating mutations
                            18
                            [Expert consensus on diagnosis, treatment and management on X-linked hypophosphatemic rickets in children]. X连锁低磷性佝偻病是一种由于PHEX基因变异所致的骨骼和牙齿矿化障碍性X连锁显性遗传病,可累及骨骼、肌肉、牙齿等多系统多器官,致残率高。但症状缺乏特异性,难以与其他佝偻病鉴别。诊断需综合病史、症状和体征、生化检测、影像学检查、基因检测进行分析。本病尚无根治性治疗方法,临床多采用传统治疗(磷酸盐制剂和活性维生素D)、布罗索尤单抗、骨科治疗等。早期诊断、早期治疗可有效改善其预后及提高生活质量,患者需终生坚持多学科、多团队规范化治疗和随访。.
                            19
                            Daily v. weekly oral vitamin D(3) therapy for nutritional rickets in Indian children: a randomised controlled open-label trial. The aim of the study was to compare the efficacy of daily . weekly oral vitamin D therapy in radiological healing of nutritional rickets. Children 6 months to 12 years ( 132) diagnosed with nutritional rickets were randomised into three groups ( 44): group A - 2000 IU
                            20
                            The Development of Rickets in Children and Nursing Contributions to Treatment. Rickets is one of the most prevalent non-communicable diseases in children in the developing world. It is often found in cultures in which children follow strict vegetarian diets and are not exposed to vitamin D-enhanced foods. While a rare occurrence, X-linked hypophosphatemic rickets may be the most frequent type of the disease seen outside the Third World today. However, there is not much credible information on the extent of the development of rickets. Therefore, pediatric nurses must be able to recognize children at risk and provide best practice care for the prevention and treatment of rickets. When caring for children in hospitals, communities or classrooms, nurses play a vital role in identifying children at risk