15,865 results match your criteria Rickets Imaging


Randomized trial of intravenous iron-induced hypophosphatemia.

JCI Insight 2018 Dec 6;3(23). Epub 2018 Dec 6.

AMAG Pharmaceuticals, Inc., Waltham, Massachusetts, USA.

Background: Hypophosphatemia can complicate intravenous iron therapy, but no head-to-head trials compared the effects of newer intravenous iron formulations on risks and mediators of hypophosphatemia.

Methods: In a randomized, double-blinded, controlled trial of adults with iron deficiency anemia from February 2016 to January 2017, we compared rates of hypophosphatemia in response to a single FDA-approved course of ferric carboxymaltose (n = 1,000) or ferumoxytol (n = 997). To investigate pathophysiological mediators of intravenous iron-induced hypophosphatemia, we nested within the parent trial a physiological substudy (ferric carboxymaltose, n = 98; ferumoxytol, n = 87) in which we measured fibroblast growth factor 23 (FGF23), calcitriol, and parathyroid hormone (PTH) at baseline and 1, 2, and 5 weeks later. Read More

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December 2018
2 Reads

Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review.

Acta Clin Belg 2018 Dec 3:1-5. Epub 2018 Dec 3.

a Department of Pediatrics, Division of Pediatric Nephrology and Rheumatology , Ghent University Hospital , Ghent , Belgium.

We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3, the boy exhibited dysmorphic features and bilateral cataract. Read More

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December 2018

Prevalence of Metabolic Bone Disease in Tube-Fed Children Receiving Elemental Formula.

Horm Res Paediatr 2018 Nov 29:1-8. Epub 2018 Nov 29.

Division of Pediatric Endocrinology, Mayo Clinic, Rochester, Minnesota, USA.

Background: Previous studies suggest normal mineral status in children receiving elemental formula. However, a recent multicenter survey described 51 children who developed hypophosphatemia and bone disease while receiving elemental formula. Our aim is to determine the prevalence of metabolic bone disease in children receiving extensively hydrolyzed or amino acid-based formula. Read More

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November 2018

Percutaneous low-energy osteotomy in treatment of pathological coronal knee deformities in pediatrics.

J Pediatr Orthop B 2018 Nov 21. Epub 2018 Nov 21.

Department of Orthopaedic Surgery, Ain Shams University, Cairo, Egypt.

The aim of this study was to assess the safety and efficacy of percutaneous low-energy osteotomy and casting in treatment of pathological coronal knee deformities in children equal or younger than 6 years. A prospective nonrandomized case series study was conducted. A total of 62 (109 limbs) patients with pathological coronal knee deformities were treated by percutaneous low-energy osteotomy and casting and observed over 3-10 years. Read More

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November 2018

[Secondary osteoporosis. Abnormal bone metabolism in rickets/osteomalacia.]

Authors:
Seiji Fukumoto

Clin Calcium 2018 ;28(12):1605-1609

Fujii Memorial Institute of Medical Sciences, Institute of Advanced Medical Sciences, Tokushima University, Tokushima, Japan.

Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. The same causes can result in rickets and osteomalacia. Of these, rickets develops before the closure of growth plates and presents bone deformities and growth retardation. Read More

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January 2018
1 Read

Impaired vitamin D sensitivity.

Physiol Res 2018 Nov;67(Supplementum 3):S391-S400

Institute of Endocrinology, Prague, Czech Republic.

Resistance to vitamin D has been known for decades as vitamin D resistant rickets, caused by mutations of the gene encoding for vitamin D receptor (VDR). Findings of extra-skeletal effects of vitamin D and learning of the molecular mechanisms used by its biologically active metabolite calcitriol revealed other ways leading to its impaired sensitivity. Calcitriol takes advantage of both genomic and non-genomic mechanisms through its binding to vitamin D receptor, located not only in the cell nuclei but also in a perinuclear space. Read More

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November 2018

Burosumab in X-linked hypophosphatemia: a profile of its use in the USA.

Drugs Ther Perspect 2018 8;34(11):497-506. Epub 2018 Oct 8.

Springer, Private Bag 65901, Mairangi Bay, 0754 Auckland, New Zealand.

Burosumab (Crysvita), a fully human IgG1 monoclonal antibody directed at fibroblast growth factor 23 (FGF23), is indicated for the treatment of X-linked hypophosphatemia (XLH), a condition associated with excessive FGF23 production. It directly addresses the excessive FGF23 activity in patients with XLH by binding to FGF23, and inhibiting its signaling. This leads to increased gastrointestinal phosphate absorption and renal phosphate reabsorption, thereby improving serum phosphate levels, and, ultimately, bone mineralization and the risk of bone disease. Read More

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October 2018
4 Reads

Selective rickets from localized advanced maturation-a case report.

Authors:
Alan E Oestreich

Skeletal Radiol 2018 Nov 20. Epub 2018 Nov 20.

Department of Radiology ML 5031, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229-3039, USA.

An unusual cause of rickets is illustrated by a patient with infantile multisystem inflammatory disease who, by age 2 years and 4 months, developed striking radiographic and clinical rickets restricted to those joints involved by the inflammatory process. The locally increased vascularity from his inflammation led to increased maturation at those sites so rapid as to override the usual enchondral calcification, thus causing a rickets pattern. Other sites, such as the proximal humeri, lacking any inflammation, showed no increased maturation rate and did not manifest local rickets. Read More

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November 2018
1 Read

Hypophosphatemic Rickets.

Pediatr Clin North Am 2019 Feb;66(1):179-207

The Research Institute of the McGill University Health Centre, 1001 Boulevard Décarie, Room EM1.2232, Montreal, Quebec H4A3J1, Canada.

Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems and nephrolithiasis/nephrocalcinosis. Conventional treatment consists of PO4 supplements and calcitriol requiring monitoring for treatment-emergent adverse effects. FGF23 measurement, where available, has implications for the differential diagnosis of hypophosphatemia syndromes and, potentially, treatment monitoring. Read More

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February 2019
1 Read
2.198 Impact Factor

Update on Dent Disease.

Pediatr Clin North Am 2019 Feb;66(1):169-178

Division of Nephrology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:

Dent disease is an X-linked form of chronic kidney disease characterized by hypercalciuria, low molecular weight proteinuria, nephrocalcinosis, and proximal tubular dysfunction. Clinical presentation is highly variable. Male patients may present with early-onset rickets, recurrent nephrolithiasis, or insidiously with asymptomatic proteinuria or chronic kidney disease. Read More

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February 2019
2 Reads

Reversible myelofibrosis due to severe Vitamin D deficiency rickets.

Med J Armed Forces India 2018 Oct 5;74(4):404-406. Epub 2017 Oct 5.

Professor, Department of Pediatrics, Armed Forces Medical College, Pune 411040, India.

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October 2018

Phosphate homeostasis disorders.

Best Pract Res Clin Endocrinol Metab 2018 10 18;32(5):685-706. Epub 2018 Jun 18.

Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address:

Our understanding of the regulation of phosphate balance has benefited tremendously from the molecular identification and characterization of genetic defects leading to a number of rare inherited or acquired disorders affecting phosphate homeostasis. The identification of the key phosphate-regulating hormone, fibroblast growth factor 23 (FGF23), as well as other molecules that control its production, such as the glycosyltransferase GALNT3, the endopeptidase PHEX, and the matrix protein DMP1, and molecules that function as downstream effectors of FGF23 such as the longevity factor Klotho and the phosphate transporters NPT2a and NPT2c, has permitted us to understand the complex interplay that exists between the kidneys, bone, parathyroid, and gut. Such insights from genetic disorders have allowed not only the design of potent targeted treatment of FGF23-dependent hypophosphatemic conditions, but also provide clinically relevant observations related to the dysregulation of mineral ion homeostasis in health and disease. Read More

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October 2018
1 Read

Vitamin D insufficiency: Definition, diagnosis and management.

Best Pract Res Clin Endocrinol Metab 2018 10 3;32(5):669-684. Epub 2018 Oct 3.

Laboratory of Clinical and Experimental Endocrinology, Department of Chronic Diseases, Metabolism and Ageing, KU Leuven, Belgium.

Severe vitamin D deficiency can be defined as the dose of vitamin D or serum 25OHD concentrations needed to prevent nutritional rickets or osteomalacia. There is large international consensus that these diseases can be prevented by 400 IU of vitamin D/d and 25OHD above 30 nmol/l (12 ng/ml). Vitamin D deficiency can also accelerate the risk of fractures and probably also of falls in elderly subjects but there is no consensus on the required daily doses or minimal 25OHD threshold for these endpoints. Read More

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October 2018
9 Reads

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Eur J Med Genet 2018 Nov 12. Epub 2018 Nov 12.

Department of Endocrinology and Genetic Metabolic Diseases, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, 400014, Chongqing, China. Electronic address:

Metaphyseal anadysplasia 1 (MIM# 602111) belongs to a heterogeneous group of skeletal diseases characterized by an autosomal dominant form of growth defects due to metaphyseal changes with epiphyseal involvement similar to other metaphyseal disorders. Matrix metalloproteinase 13 encoded by MMP13 presumably plays important roles in bone formation and growth, and pathogenic variants in MMP13 have been identified to cause metaphyseal anadysplasia 1. Only six pathogenic variants in MMP13 have been previously reported worldwide. Read More

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November 2018
2 Reads

Hypophosphatasia: A rare disorder.

J Am Assoc Nurse Pract 2018 Nov;30(11):600-602

Graduate School of Nursing, Uniformed Services University, Bethesda, Maryland.

Hypophosphatasia is a rare, progressive metabolic disorder inherited in either an autosomal dominant or an autosomal recessive fashion. Affected individuals may have unusual bone development. Infants may be diagnosed with infantile rickets. Read More

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November 2018
2 Reads

Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets.

Authors:
P Jin L H Wang Z H Mo

J Endocrinol Invest 2018 Nov 8. Epub 2018 Nov 8.

Department of Endocrinology, The Third Xiangya Hospital, Central South University, Tongzipo Road, Changsha, Hunan Province, People's Republic of China.

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November 2018

Comparison of Treatment Regimens for the Management of Severe Hypercalcemia due to Vitamin D Intoxication in Children.

J Clin Res Pediatr Endocrinol 2018 Nov 5. Epub 2018 Nov 5.

Background/aims: No large study has been conducted so far to compare the efficiencies of prednisolone, alendronate, and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. We aimed to perform a multicenter, retrospective study assessing clinical characteristics and treatment results.

Methods: A standard questionnaire was uploaded to an online national database system to collect data of children with hypercalcemia (serum calcium level >10. Read More

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November 2018
5 Reads

Physiological regulation of phosphate by vitamin D, parathyroid hormone (PTH) and phosphate (Pi).

Pflugers Arch 2018 Nov 5. Epub 2018 Nov 5.

Centre for Nephrology, University College London (UCL), Royal Free Campus, Rowland Hill Street, London, NW3 2PF, UK.

Inorganic phosphate (Pi) is an abundant element in the body and is essential for a wide variety of key biological processes. It plays an essential role in cellular energy metabolism and cell signalling, e.g. Read More

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November 2018
5 Reads

Mutation update and long-term outcome after treatment with active vitamin D in Chinese patients with pseudovitamin D-deficiency rickets (PDDR).

Osteoporos Int 2018 Oct 31. Epub 2018 Oct 31.

Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing, 100730, China.

Pseudovitamin D-deficiency rickets is a rare disease which is caused by CYP27B1. In this study, we identified 9 mutations in 7 PDDR patients. In addition, we observed the response to long-term treatment of calcitriol in 15 Chinese patients with PDDR, which showed that the biochemical abnormalities had been corrected satisfactorily after 1-year treatment. Read More

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October 2018
1 Read

Distal renal tubular acidosis secondary to vesico-ureteric reflux: A case report with review of literature.

Saudi J Kidney Dis Transpl 2018 Sep-Oct;29(5):1240-1244

Bombay Hospital and Research Center, Indore, Madhya Pradesh, India.

Vesicoureteric reflux (VUR) is the most common congenital anomaly of the urinary tract that occurs in 30%-50% of children presenting with recurrent urinary tract infections. Long-standing untreated VUR results in renal scarring and hydronephrotic changes ultimately leading to chronic renal failure and arterial hypertension. However, it may also result in diffuse tubulopathy compromising the concentrating capacity of tubules and urinary acidification defects. Read More

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November 2018
2 Reads

Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic Mutation.

Ann Clin Lab Sci 2018 Sep;48(5):665-669

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea

Recent molecular genetic studies have revealed that Schimmelpenning-Feuerstein-Mims syndrome (SFMS), which presents as sebaceous nevi, is a mosaic RASopathy caused by postzygotic somatic activating mutations in , , or Some patients with SFMS also have hypophosphatemic rickets, called cutaneous skeletal hypophosphatemia syndrome (CSHS). We here report a pediatric case of biopsy-proven CSHS with mosaic mutation in the gene. A girl who showed extensive nevus sebaceous since birth had suffered progressive lower extremity deformity since the age of 5 years. Read More

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September 2018
7 Reads

Nutritional rickets among children admitted with severe pneumonia at Mulago hospital, Uganda: a cross-sectional study.

BMC Pediatr 2018 Oct 29;18(1):336. Epub 2018 Oct 29.

University of Nairobi, Nairobi, Kenya.

Background: There's abundant sunshine in the tropics but severe rickets is still observed. Nutritional rickets is associated with an increased risk of acute lower respiratory infections. Pneumonia is the leading cause of death in the under 5 -year old children with the highest burden in developing countries. Read More

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October 2018
4 Reads

High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR).

J Bone Miner Res 2018 Oct 23. Epub 2018 Oct 23.

Pediatric Neurosurgery, Hôpital Femme Mère Enfant, Hospices Civiles de Lyon and University Claude Bernard Lyon 1, Bron Cedex, France.

X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets and osteomalacia in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation, have been observed in children with XLHR, their actual incidence and characteristics are not established. The aims of this study were to analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in children with XLHR and describe its features. Read More

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October 2018
8 Reads

FGF23 blockade coming to clinical practice.

Kidney Int 2018 Nov;94(5):846-848

Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany. Electronic address:

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November 2018

Treatment of Vitamin D Deficiency and Comorbidities: A Review.

Authors:
Parminder Singh

J Assoc Physicians India 2018 Jan;66(1):75-82

Professor and the Head of Department- Endocrinology, Dayanand Medical College and Hospital, Ludhiana, Punjab.

Vitamin D is essential for the maintenance of calcium and phosphorus homeostasis, skeletal growth and various other metabolic processes. The prevalence of vitamin D deficiency in India is 50-90% in various studies. Factors such as low sunlight exposure, age-related decrease in cutaneous synthesis, and low dietary intake of vitamin D contribute to the high prevalence of vitamin D inadequacy which has emerged as a highly pervasive condition. Read More

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January 2018
9 Reads

Skeletal and extra-skeletal actions of vitamin D: Current evidence and outstanding questions.

Endocr Rev 2018 Oct 12. Epub 2018 Oct 12.

Department of Endocrinology, Columbia University College of Physicians and Surgeons, New York, NY, USA.

The etiology of endemic rickets was discovered a century ago. Vitamin D is the precursor of 25-hydroxyvitamin D and other metabolites, including 1,25(OH)2D, the ligand for the vitamin D receptor (VDR). The effects of the vitamin D endocrine system on bone and its growth plate is primarily indirect and mediated by its effect on intestinal calcium transport and serum calcium and phosphate homeostasis. Read More

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October 2018
6 Reads

Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney.

Clin Exp Nephrol 2018 Oct 13. Epub 2018 Oct 13.

Department of Molecular Nutrition, Institute of Biomedical Sciences, University of Tokushima Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.

Background: The role of Na-dependent inorganic phosphate (Pi) transporters in the human kidney is not fully clarified. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is caused by loss-of-function mutations in the IIc Na-dependent Pi transporter (NPT2c/Npt2c/NaPi-IIc) gene. Another Na-dependent type II transporter, (NPT2A/Npt2a/NaPi-IIa), is also important for renal Pi reabsorption in humans. Read More

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October 2018
3 Reads

Elemental formula associated hypophosphataemic rickets.

Clin Nutr 2018 Sep 28. Epub 2018 Sep 28.

Department of Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, UK; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK. Electronic address:

Objectives: Hypophosphataemic rickets (HR) is usually secondary to renal phosphate wasting but may occur secondary to reduced intake or absorption of phosphate. We describe a series of cases of HR associated with the use of Neocate, an amino-acid based formula (AAF).

Methods: A retrospective review of cases with HR associated with AAF use presenting to centres across the United Kingdom. Read More

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September 2018
2 Reads

[Clinical features and genetic analysis of a case with Coffin-Siris syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Oct;35(5):707-710

Central Laboratory, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430016, China.

Objective: To explore the clinical features and genomic abnormality of a patient with Coffin-Siris syndrome.

Methods: Microdeletion and microduplication were detected with chromosomal microarray analysis (CMA) and verified with real-time quantitative PCR.

Results: The patient, a 6-month-old boy, featured global development delay, thick eyebrows, low frontal hairline, long eyelash, flat nasal bridge, hypotonia, difficulty in turning over, over stretching of head, and hypoplatic nails. Read More

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October 2018

[Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Oct;35(5):644-647

Laboratory of Medical Genetics, Huai'an Maternal and Child Health Hospital, Huai'an, Jiangsu 223002, China.

Objective: To explore the molecular basis for three pedigrees affected with hypophosphatemia vitamin D resistant rickets (X-linked hypophosphatemia, XLH).

Methods: Peripheral blood samples from the three pedigrees were collected. Following DNA extraction, the 11 exons and flanking regions of the PHEX gene were subjected to PCR amplification and direct sequencing. Read More

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October 2018
1 Read

[Mutation analysis of four pedigrees affected with hypophosphatemic rickets through targeted next-generation sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Oct;35(5):638-643

Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To detect potential mutations of PHEX gene in four pedigrees affected with hypophosphatemic rickets (HR) and provide prenatal diagnosis for a fetus at 13th gestational week.

Methods: The coding regions and exon/intron boundaries of PHEX, FGF23, DMP1, ENPP1, CLCN5 and SLC34A3 genes of the probands were analyzed by targeted next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing among unaffected relatives and 200 unrelated healthy individuals. Read More

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October 2018
1 Read

Co-morbidity with hypertrophic osteoarthropathy: A possible Iron Age Sarmatian case from the Volga steppe of Russia.

Int J Paleopathol 2018 Oct 5;24:66-78. Epub 2018 Oct 5.

Department of Electronic Devices, St. Petersburg State Electrotechnical University «LETI», 5 Professora Popova street, St. Petersburg, Russia. Electronic address:

Purpose: Hypertrophic osteoarthropathy (HOA) is a condition that can be inherited or acquired. It causes diffuse periosteal new bone formation on the long bones, with a predilection for the appendicular skeleton. When acquired, it is a nonspecific indicator of systemic disease that arises following a primary condition. Read More

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October 2018
4 Reads

PHPT Masquerading as Rickets in Children and Presenting with Rare Skeletal Manifestations: Report of Three Cases and Review of Literature.

Indian J Endocrinol Metab 2018 Sep-Oct;22(5):705-709

Department of Endocrinology, SGPGIMS, Lucknow, Uttar Pradesh, India.

Primary hyperparathyroidism (PHPT) is an uncommon condition in children and adolescents. However, rapid growth spurt during puberty may result in unmasking and development of certain skeletal manifestations of PHPT. We present three cases of PHPT associated with rare skeletal manifestations of rickets. Read More

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October 2018
2 Reads

Profile of asfotase alfa in the treatment of hypophosphatasia: design, development, and place in therapy.

Drug Des Devel Ther 2018 24;12:3147-3161. Epub 2018 Sep 24.

Division of Biosciences, College of Dentistry, The Ohio State University, Columbus, OH 43205, USA.

Hypophosphatasia (HPP) is a multi-systemic metabolic disorder caused by loss-of-function mutations in the gene that encodes the mineralization-associated enzyme, tissue-nonspecific alkaline phosphatase (TNSALP). HPP is characterized by defective bone and dental mineralization, leading to skeletal abnormalities with complications resulting in significant morbidity and mortality. Management of HPP has been limited to supportive care until the introduction of a recently approved enzyme replacement therapy employing bone-targeted recombinant human TNSALP, asfotase alfa (AA). Read More

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September 2018

Genetic and clinical characteristics of the patients with Vitamin D Dependent Rickets Type 1A.

J Clin Res Pediatr Endocrinol 2018 Oct 4. Epub 2018 Oct 4.

Department of Pediatric Endocrinology, Istinye University, Medical Faculty, Istanbul, Turkey.

Objective: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 25OHD 1α-hydroxylase gene (). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis.

Methods: We analysed genomic DNA from 11 patients from 8 different Turkish families. Read More

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October 2018
2 Reads

[Rickets/Osteomalacia. Treatment of vitamin D deficiency in adults.]

Clin Calcium 2018;28(10):1387-1392

Toranomon Hospital Endocrine Center, Tokyo, Japan.

Treatment of vitamin D deficiency in adults requires adequate diagnosis based on the rigorous definition of the disease. Recently, it has been reported that assessment criteria for vitamin D deficiency/insufficiency in Japan proposed by an expert panel. However, it is not yet certain whether supplementation of vitamin D as a nutrient to patients with diseases due to vitamin D deficiency per se is sufficient and appropriate if they are judged to be vitamin D deficient. Read More

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January 2018
9 Reads

[Rickets/Osteomalacia. Symptomatic vitamin D deficiency in children and its prevention and treatment.]

Authors:
Takuo Kubota

Clin Calcium 2018;28(10):1381-1386

Department of Pediatrics, Osaka University Graduate School of Medicine, Japan.

Vitamin D deficiency rickets is characterized by mineralization impairment in bone and cartilage of children caused by vitamin D deficiency in the body due to limited sunlight exposure and vitamin D intake. Vitamin D supplementation is recommended in developed countries. Low calcium intake is a risk factor for vitamin D deficiency rickets. Read More

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January 2018

[Rickets/Osteomalacia. Anti-FGF23 antibody therapy in patients with FGF23-related hypophosphatemic rickets and osteomalacia.]

Authors:
Yuka Kinoshita

Clin Calcium 2018;28(10):1373-1379

Division of Nephrology & Endocrinology, Department of Medicine, The University of Tokyo Hospital, Japan.

Fibroblast growth factor 23(FGF23)is a phosphaturic hormone, and its excess causes several kinds of congenital and acquired hypophosphatemic diseases. A combination of oral active vitamin D3 and phosphate salt is the current standard therapy for patients with FGF23-related hypophosphatemic rickets and osteomalacia. However, these medications may cause long-term complications, such as secondary hyperparathyroidism and chronic kidney disease. Read More

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January 2018
2 Reads

[Rickets/Osteomalacia. Vitamin D action:Lessons from animal models.]

Authors:
Ritsuko Masuyama

Clin Calcium 2018;28(10):1365-1371

Nagasaki University Graduate School of Biomedical Sciences, Japan.

Animal studies using mice model such as vitamin D deficiency and global and conditional VDR knock out(KO)mice have disclosed that the physiological role of vitamin D strongly depends on the calcium balance. Vitamin D stimulates active intestinal calcium transport mechanism, thereby maintains normocalcemia that has priority over skeletal integrity. Besides the biological significance of vitamin D extensively studied, its precise function in non-classical target needs further investigation. Read More

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January 2018
7 Reads

[Rickets/Osteomalacia. Non-skeletal effects of vitamin D.]

Authors:
Mika Yamauchi

Clin Calcium 2018;28(10):66-1364

Internal Medicine 1, Shimane University Faculty of Medicine, Izumo, Japan.

A variety of epidemiological studies and meta-analyses have shown that vitamin D insufficiency or deficiency not only affects bone and mineral metabolism, but is also linked to sarcopenia, metabolic diseases such as diabetes, obesity, and metabolic syndrome, cancer, autoimmune disease, and other diseases. There has been accumulating evidence that vitamin D deficiency, defined as a serum 25(OH)D value below 20 ng/mL, is a significant risk factor for each of these diseases. However, vitamin D supplementation has not shown a therapeutic effect in any of these diseases, and a detailed cause-and-effect relationship remains elusive. Read More

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January 2018

[Rickets/Osteomalacia. Diagnosis of tumor-induced osteomalacia.]

Clin Calcium 2018;28(10):1351-1357

Department of Nephrology and Endocrinology, The University of Tokyo Hospital, Japan.

Tumor-induced osteomalacia is a fibroblast growth factor 23(FGF23)-related hypophosphatemic disorder caused by FGF23 producing tumor. TIO represents bone pain, fracture/pseudofracture, muscle weakness, etc which could lead the patient bedridden. Serum phosphate level of these patients is low with concomitant inappropriately elevated FGF23 level. Read More

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January 2018
8 Reads

[Rickets/Osteomalacia. Vitamin D dependency.]

Authors:
Sachiko Kitanaka

Clin Calcium 2018;28(10):1343-1349

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan.

Vitamin D dependency is caused by inborn error in the process of vitamin D metabolism or action. It is classified to vitamin D-dependent rickets type 1 which shows defective 1,25(OH)2D production, and vitamin D-dependent rickets type 2 which shows end-organ unresponsiveness to 1,25(OH)2D. Recent advance in the molecular analysis of these diseases revealed variety in the presentation and in the inheritance patterns. Read More

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January 2018

[Rickets/Osteomalacia. Action of FGF23.]

Authors:
Daisuke Inoue

Clin Calcium 2018;28(10):1335-1342

Third Department of Medicine, Teikyo University Chiba Medical Center, Japan.

FGF23 is an "endocrine FGF" mainly secreted by osteocytes. FGF23 exerts its action through binding to an FGF receptor isoform, FGFR1c, using α-Klotho as a co-receptor. The main physiological function of FGF23 is to suppress phosphate reabsorption and active vitamin D production in the proximal tubule of the kidney, thereby lowering serum concentration of inorganic phosphate. Read More

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January 2018
4 Reads

[Rickets/Osteomalacia. Determination of vitamin D metabolites.]

Authors:
Naoko Tsugawa

Clin Calcium 2018;28(10):1327-1334

Laboratory of Public Health, Department of Health and Nutrition, Faculty of Health and Nutrition, Osaka Shoin Women's University, Japan.

Vitamin D are taken from sunlight exposure and foods, such as oil rich fish. Serum 25-hydroxyvitamin D concentration is most appropriate marker to assess nutritional vitamin D status. On the other hand, 1,25-dihydroxyvitamin D is a clinical marker of disorders in calcium metabolism. Read More

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January 2018
2 Reads

[Rickets/Osteomalacia. The function and mechanism of vitamin D action.]

Authors:
Makoto Makishima

Clin Calcium 2018;28(10):1319-1326

Division of Biochemistry, Department of Biomedical Sciences, Nihon University School of Medicine, Tokyo, Japan.

The antirickets factor vitamin D exhibits its action through activation of vitamin D receptor(VDR). The active form of vitamin D, 1α,25-dihydroxyvitamin D3[1,25(OH)2D3], is a potent VDR ligand, and contributes to the maintenance of calcium homeostasis by enhancing intestinal calcium absorption, renal calcium reabsorption and bone resorption. 1,25(OH)2D3 also regulates bone formation, phosphorus metabolism and vitamin D metabolism. Read More

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January 2018

[Rickets/Osteomalacia. FGF23-related hypophosphatemic rickets/osteomalacia.]

Authors:
Seiji Fukumoto

Clin Calcium 2018;28(10):1313-1317

Fujii Memorial Institute of Medical Sciences, Institute of Advanced Medical Sciences, Tokushima University, Japan.

FGF23 is a hormone that reduces blood phosphate level. Excessive actions of FGF23 result in several kinds of hypophosphatemic rickets/osteomalacia such as X-linked hypophosphatemic rickets and tumor-induced osteomalacia. It is not clear how excessive actions of FGF23 are induced in these diseases. Read More

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January 2018

[Rickets/Osteomalacia. Consensus on Vitamin D Deficiency and Insufficiency in Children.]

Clin Calcium 2018;28(10):1307-1311

Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Japan.

Vitamin D deficiency is usually manifested as rickets in children. Since vitamin D deficiency/insufficiency is common worldwide, global consensus has been formulated on prevention, diagnosis and treatment of nutritional rickets represented by vitamin D-deficient rickets. This consensus has defined vitamin D insufficiency as the status with serum 25-hydroxyvitamin D(25OHD)level between 12 and 20 ng/mL and vitamin D deficiency as the status with serum 25OHD level below 12 ng/mL. Read More

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January 2018
2 Reads

Novel biosensor using split-luciferase for detecting vitamin D receptor ligands based on the interaction between vitamin D receptor and coactivator.

Biochem Biophys Res Commun 2018 Oct 26;505(2):460-465. Epub 2018 Sep 26.

Department of Pharmaceutical Engineering, Faculty of Engineering, Toyama Prefectural University, 5180 Kurokawa, Imizu, Toyama, 939-0398, Japan. Electronic address:

Vitamin D receptor (VDR) ligands, such as 1α,25-dihydroxyvitamin D [1α,25(OH)D] and its analogs, have been investigated for their potential clinical use in the treatment of various diseases such as type I rickets, osteoporosis, psoriasis, leukemia, and cancer. Previously, we reported a split-luciferase-based biosensor that can detect VDR ligands and assess their affinity for the ligand binding domain (LBD) of the VDR in a short time. However, a further increase in its sensitivity was required to detect plasma levels of 1α,25(OH)D and its analogs. Read More

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October 2018
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An 8-year-old with genu valgum: Answers.

Pediatr Nephrol 2018 Sep 26. Epub 2018 Sep 26.

Renal Section, Department of Pediatrics, Baylor College of Medicine, 1102 Bates St, Suite 245, Houston, TX, 77030, USA.

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September 2018
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