Rickets

14,000,000 Leading Edge Experts on the ideXlab platform

Scan Science and Technology

Contact Leading Edge Experts & Companies

Scan Science and Technology

Contact Leading Edge Experts & Companies

The Experts below are selected from a list of 8436 Experts worldwide ranked by ideXlab platform

Seiji Fukumoto - One of the best experts on this subject based on the ideXlab platform.

  • pathogenesis and diagnostic criteria for Rickets and osteomalacia proposal by an expert panel supported by the ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society
    Journal of Bone and Mineral Metabolism, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Keiichi Ozono, Yasuhiro Takeuchi, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of Rickets and osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, Rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose Rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of Rickets and osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.

  • pathogenesis and diagnostic criteria for Rickets and osteomalacia proposal by an expert panel supported by ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society opinion
    Endocrine Journal, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Keiichi Ozono, Yasuhiro Takeuchi, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of Rickets and osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, Rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose Rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of Rickets and osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.

  • pathogenesis and diagnostic criteria for Rickets and osteomalacia proposal by an expert panel supported by ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society opinion
    Endocrine Journal, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Keiichi Ozono, Yasuhiro Takeuchi, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations revealed that the causes for Rickets and osteomalacia are quite variable. While these diseases can severely impair the quality of life of the affected patients, Rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose Rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of Rickets and osteomalacia, and propose the diagnostic criteria and a flowchart for the differential diagnosis of various causes for these diseases. We hope that these criteria and flowchart are clinically useful for the proper diagnosis and management of patients with these diseases.

  • mutational analysis of patients with fgf23 related hypophosphatemic Rickets
    European Journal of Endocrinology, 2012
    Co-Authors: Yuka Kinoshita, Manabu Taguchi, Yuichiro Shimizu, Seiji Fukumoto, Michiko Hori, Takashi Igarashi, T. Saito, Toshiro Fujita
    Abstract:

    Objective: X-linked hypophosphatemic Rickets (XLHR) caused by mutations in the PHEX gene is considered to be the most frequent cause of fibroblast growth factor 23 (FGF23)-related congenital hypophosphatemic Rickets. In previous studies, mutations in the PHEX gene were detected in 60‐70% of patients with clinical diagnoses of XLHR. This leads to the question whether current screening methods for mutations in the PHEX gene are inadequate or whether there is a substantial number of patients with other genetic causes of hypophosphatemic Rickets. We conducted a genetic analysis of patients with FGF23-related hypophosphatemic Rickets to clarify their etiology and evaluate the prevalence of XLHR among this group. Design and methods: We studied 27 patients with familial and sporadic congenital hypophosphatemic Rickets in whom serum FGF23 was above 30 pg/ml using an assay for the full-length protein. Exons and exon‐intron junctions of genomic DNA of causative genes for FGF23-related hypophosphatemic Rickets were sequenced. PHEX mRNA from peripheral blood was analyzed in some patients. Results: Direct sequencing of genomic DNA identified 11 novel and four known mutations in the PHEX gene. Additionally, there was a large PHEX gene deletion in one case and abnormal PHEX mRNA splicing in another. In summary, 26 patients (96%) had XLHR and one patient had autosomal recessive hypophosphatemic Rickets 2. Conclusions: XLHR is by far the most prevalent cause of FGF23-related hypophosphatemic Rickets. We propose that analysis of PHEX mRNA from peripheral blood would be appropriate for the first screening step in determining the etiology of FGF23-related hypophosphatemic Rickets.

  • a patient with hypophosphatemic Rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in enpp1 gene
    Bone, 2011
    Co-Authors: T. Saito, Manabu Taguchi, Yuichiro Shimizu, Seiji Fukumoto, Michiko Hori, Takashi Igarashi, Toshiro Fujitab
    Abstract:

    Abstract X-linked hypophosphatemic Rickets/osteomalacia (XLH), autosomal dominant hypophosphatemic Rickets/osteomalacia (ADHR) and autosomal recessive hypophosphatemic Rickets/osteomalacia (ARHR1 or ARHR2) are hereditary fibroblast growth factor 23 (FGF23)-related hypophosphatemic Rickets showing similar clinical features. We here show a patient with hypophosphatemic Rickets and widespread ossification of posterior longitudinal ligament (OPLL). The proband is a 62-year-old female. Her parents are first cousins and showed no signs of Rickets or osteomalacia. She showed hypophosphatemic Rickets with elevated FGF23 level and had been clinically considered to be suffering from XLH. However, direct sequencing of all coding exons and exon–intron junctions of phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX) , FGF23 and dentin matrix protein 1 (DMP1) genes, responsible genes for XLH, ADHR and ARHR1, respectively, showed no mutation. A novel homozygous splice donor site mutation was found at the exon–intron junction of exon 21 of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene responsible for ARHR2 (IVS21 + 1_3(GTA > CACC)). Subsequent analysis of mRNA revealed that this mutation caused skipping of exon 21 which created a premature stop codon in exon 22. These results indicate that genetic analysis is mandatory for the correct diagnosis of hereditary FGF23-related hypophosphatemic Rickets. Because Enpp1 knockout mouse is a model of OPLL, this case also suggests that OPLL is associated with ARHR2.

Toshio Matsumoto - One of the best experts on this subject based on the ideXlab platform.

Keiichi Ozono - One of the best experts on this subject based on the ideXlab platform.

  • pathogenesis and diagnostic criteria for Rickets and osteomalacia proposal by an expert panel supported by the ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society
    Journal of Bone and Mineral Metabolism, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Keiichi Ozono, Yasuhiro Takeuchi, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of Rickets and osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, Rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose Rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of Rickets and osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.

  • pathogenesis and diagnostic criteria for Rickets and osteomalacia proposal by an expert panel supported by ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society opinion
    Endocrine Journal, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Keiichi Ozono, Yasuhiro Takeuchi, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of Rickets and osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, Rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose Rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of Rickets and osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.

  • pathogenesis and diagnostic criteria for Rickets and osteomalacia proposal by an expert panel supported by ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society opinion
    Endocrine Journal, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Keiichi Ozono, Yasuhiro Takeuchi, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations revealed that the causes for Rickets and osteomalacia are quite variable. While these diseases can severely impair the quality of life of the affected patients, Rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose Rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of Rickets and osteomalacia, and propose the diagnostic criteria and a flowchart for the differential diagnosis of various causes for these diseases. We hope that these criteria and flowchart are clinically useful for the proper diagnosis and management of patients with these diseases.

  • treatment of hypophosphatemic Rickets with phosphate and active vitamin d in japan a questionnaire based survey
    Clinical Pediatric Endocrinology, 2013
    Co-Authors: Makoto Fujiwara, Noriyuki Namba, Osamu Arisaka, Keiichi Ozono, Susumu Yokoya
    Abstract:

    Hereditary hypophosphatemic Rickets represented by X-linked hypophosphatemic Rickets (XLH) is a rare disorder characterized by hypophosphatemia, elevated alkaline phosphatase (ALP) and undermineralization of bone. Active vitamin D and phosphate are administered to correct hypophosphatemia and elevation of ALP. Overtreatment with phosphate leads to secondary hyperparathyroidism, and a large dose of active vitamin D has a risk of hypercalciuria. To understand the situation concerning treatment of patients with hereditary hypophosphatemic Rickets in Japan, we conducted a questionnaire survey of pediatric endocrinologists. Answers were obtained from 53 out of 68 hospitals where the pediatric endocrinologists worked. One hundred and thirty-five patients were treated in 28 hospitals during November 2009 and May 2010; 126 patients suffered from hereditary hypophosphatemic Rickets, and 9 had hypophosphatemia caused by other miscellaneous reasons. The distribution of patient age was as follows: 27 (21%) were between 6 mo and 6 yr of age, 39 (31%) were between 6 and 12 yr of age, and 60 (48%) were more than 12 yr of age. Active vitamin D was given to 123 patients, and phosphate was given to 106 patients. As for the dose of phosphorus, 37.2-58.1 mg/ kg/d was given divided into 2 to 6 aliquots. There were various control targets of treatment, including serum phosphate, serum ALP, rachitic change, urinary Ca/Cr, parathyroid hormone and growth. It is very important to avoid side effects of these treatments. No evidence is available about the optimal dose of phosphate or number of administrations in the treatment of patients with hypophosphatemic Rickets. Although there is a recommendation for clinical management of patients with hypophosphatemic Rickets, we should set a clinical guideline for it in Japan.

Wolfgang Högler - One of the best experts on this subject based on the ideXlab platform.

  • nutritional Rickets and osteomalacia in the twenty first century revised concepts public health and prevention strategies
    Current Osteoporosis Reports, 2017
    Co-Authors: Suma Uday, Wolfgang Högler
    Abstract:

    Nutritional Rickets and osteomalacia are common in dark-skinned and migrant populations. Their global incidence is rising due to changing population demographics, failing prevention policies and missing implementation strategies. The calcium deprivation spectrum has hypocalcaemic (seizures, tetany and dilated cardiomyopathy) and late hypophosphataemic (Rickets, osteomalacia and muscle weakness) complications. This article reviews sustainable prevention strategies and identifies areas for future research. The global Rickets consensus recognises the equal contribution of vitamin D and dietary calcium in the causation of calcium deprivation and provides a three stage categorisation for sufficiency, insufficiency and deficiency. For Rickets prevention, 400 IU daily is recommended for all infants from birth and 600 IU in pregnancy, alongside monitoring in antenatal and child health surveillance programmes. High-risk populations require lifelong supplementation and food fortification with vitamin D or calcium. Future research should identify the true prevalence of Rickets and osteomalacia, their role in bone fragility and infant mortality, and best screening and public health prevention tools.

  • Nutritional Rickets in immigrant and refugee children
    Public Health Reviews, 2016
    Co-Authors: Tom D Thacher, Craig F Munns, Pawel Pludowski, Nick J. Shaw, M. Zulf Mughal, Wolfgang Högler
    Abstract:

    Immigrant and refugee populations bring public health challenges to host nations. In the current global refugee crisis, children are the most vulnerable subpopulation. Diseases that were considered rare in the host nation may be highly prevalent among immigrant children. The prevalence of nutritional Rickets is increasing in high-income countries, largely driven by an influx of immigrant populations. Nutritional Rickets is a bone disease in early childhood resulting in bone pain, delayed motor development, and bending of the bones, caused by vitamin D deficiency and/or inadequate dietary calcium intake. The consequences of nutritional Rickets include stunted growth, developmental delay, lifelong bone deformities, seizures, cardiomyopathy, and even death. Nutritional Rickets is most commonly seen in children from the Middle East, Africa, and South Asia in high-income countries. Dark skin pigmentation, sun avoidance, covering the skin, and prolonged breast feeding without vitamin D supplementation, are important risk factors for vitamin D deficiency, and combined with a lack of dairy products in the diet, these deficiencies can result in insufficient calcium supply for bone mineralization. We recommend screening all immigrant and refugee children under 5 years of age from these ethnic groups for nutritional Rickets, based on clinical features, and confirming the diagnosis with radiographs of the wrists and knees. Because nutritional Rickets is entirely preventable, public health policies must address the need for universal vitamin D supplementation and adequate dietary calcium to protect children from this scourge. Vitamin D supplementation of all infants and children with 400 IU/d during the first year of life and dietary or supplemental intakes of at least 600 IU/d of vitamin D and 500 mg/d of calcium thereafter, will effectively prevent nutritional Rickets. We call on national health authorities of host countries to implement health check lists and prevention programs that include screening for micronutrient deficiencies, in addition to assessing infections and vaccination programs. Due to their high prevalence of vitamin D deficiency, refugee children of all ages from these ethnic groups should be supplemented with vitamin D, beginning upon arrival.

  • iron supplementation associated with loss of phenotype in autosomal dominant hypophosphatemic Rickets
    The Journal of Clinical Endocrinology and Metabolism, 2015
    Co-Authors: Klaus Kapelari, Julia Kohle, Dieter Kotzot, Wolfgang Högler
    Abstract:

    Context: Autosomal dominant hypophosphatemic Rickets (ADHR) is the only hereditary disorder of renal phosphate wasting in which patients may regain the ability to conserve phosphate. Low iron status plays a role in the pathophysiology of ADHR. Objective: This study reports of a girl with ADHR, iron deficiency, and a paternal history of hypophosphatemic Rickets that resolved without treatment. The girl's biochemical phenotype resolved with iron supplementation. Subjects: A 26-month-old girl presented with typical features of hypophosphatemic Rickets, short stature (79 cm; −2.82 SDS), and iron deficiency. Treatment with elemental phosphorus and calcitriol improved her biochemical profile and resolved the Rickets. The girl's father had presented with Rickets at age 11 months but never received medication. His final height was reduced (154.3 cm; −3.51 SDS), he had undergone corrective leg surgery and had an adult normal phosphate, fibroblast growth factor 23, and iron status. Father and daughter were found to...

Michael F Holick - One of the best experts on this subject based on the ideXlab platform.

  • multiple unexplained fractures in infants and child physical abuse
    The Journal of Steroid Biochemistry and Molecular Biology, 2018
    Co-Authors: John J Cannell, Michael F Holick
    Abstract:

    When an infant presents with X-rays showing multiple unexplained fractures in various stages of healing (MUFVSH), the child is usually diagnosed with child abuse based on criteria of the Academy of Pediatrics' Committee on Child Abuse and Neglect (AAPCCAAN). Almost always, the infant is subsequently removed from the home and civil or criminal proceeding commence. It may be that healing infantile Rickets or other poorly understood metabolic bone disorders of infancy are responsible for these x-rays. Activated vitamin D is a seco-steroid hormone, whose mechanism of action is genetic regulation. Lack of it can result in musculoskeletal defects known as Rickets. Low calcium can also cause Rickets. However, it is clear that experts for the state believe that the x-rays in these cases are so definitive as to be pathognomonic for child abuse. Therefore, if the caregivers deny abusing their infants, experts following American Academy of Pediatric's Committee on Child Abuse and Neglect. guidelines are essentially claiming that x-rays showing multiple unexplained fractures in various stages of healing are lie detector tests. However, it is not widely appreciated that the gold standard for the diagnosis of Rickets is a bone biopsy, not x-rays, as radiologists miss biopsy proven Rickets 80% of the time; that is, 4 out of 5 infants with Rickets will have normal x-rays. In this article we provide reports of two cases and their outcomes. We discuss information about healing infantile Rickets and an example of common sense medical conclusions in these cases. This information could lead to a significant reduction in the number of innocent parents having their infant removed or sent to prison.

  • deficiency of sunlight and vitamin d
    BMJ, 2008
    Co-Authors: Michael F Holick
    Abstract:

    Fortification of foods and advice on sensible sun exposure are urgently needed At the turn of the 20th century more than 80% of children living in the industrialised cities of the Western hemisphere had Rickets.1 2 Rickets became extremely rare in the United Kingdom, Europe, and United States after it was realised that exposure to ultraviolet light was the major source of vitamin D, and after the fortification of milk and other foods with vitamin D.2 At least a billion people worldwide are estimated to be vitamin D deficient, mainly because of inadequate exposure to sunlight and inadequate fortification of food with vitamin D.1 3 4 5 Skin pigmentation absorbs ultraviolet light, thereby reducing vitamin D production; this can be a problem for certain racial groups who now live in the Northern hemisphere. Human breast milk contains very little vitamin D and women with vitamin D deficiency provide no vitamin D for their infant. Such infants will be at high risk of developing Rickets if they are exclusively breast fed. Rickets is the most overt sign of severe vitamin D deficiency in Europe—around 1-5% of children with vitamin D deficiency have skeletal signs of Rickets and probably 10-25% of adults with vitamin D deficiency have symptomatic osteomalacia. Vitamin D deficiency causes secondary hyperparathyroidism and increases …

  • Resurrection of vitamin D deficiency and Rickets
    Journal of Clinical Investigation, 2006
    Co-Authors: Michael F Holick
    Abstract:

    The epidemic scourge of Rickets in the 19th century was caused by vitamin D deficiency due to inadequate sun exposure and resulted in growth retardation, muscle weakness, skeletal deformities, hypocalcemia, tetany, and seizures. The encouragement of sensible sun exposure and the fortification of milk with vitamin D resulted in almost complete eradication of the disease. Vitamin D (where D represents D2 or D3) is biologically inert and metabolized in the liver to 25-hydroxyvitamin D [25(OH)D], the major circulating form of vitamin D that is used to determine vitamin D status. 25(OH)D is activated in the kidneys to 1,25-dihydroxyvitamin D [1,25(OH)2D], which regulates calcium, phosphorus, and bone metabolism. Vitamin D deficiency has again become an epidemic in children, and Rickets has become a global health issue. In addition to vitamin D deficiency, calcium deficiency and acquired and inherited disorders of vitamin D, calcium, and phosphorus metabolism cause Rickets. This review summarizes the role of vitamin D in the prevention of Rickets and its importance in the overall health and welfare of infants and children.

Rickets - 15 days free trial to Access Experts & Abstracts