2,626 results match your criteria Rickets Imaging

Prevention of Hypomineralization In Auditory Ossicles of Vitamin D Receptor (Vdr) Deficient Mice.

Front Endocrinol (Lausanne) 2022 6;13:901265. Epub 2022 Jun 6.

Department of Trauma and Orthopaedic Surgery, Division of Orthopaedics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Intact mineralization of the auditory ossicles - the smallest bones in the body - is essential for sound transmission in the middle ear, while ossicular hypomineralization is associated with conductive hearing loss. Here, we performed a high-resolution analysis of the ossicles in vitamin D receptor deficient mice ( ), which are characterized by hypocalcemia and skeletal mineralization defects, and investigated whether local hypomineralization can be prevented by feeding a calcium-rich rescue diet ( ). In mice fed a regular diet ( ), quantitative backscattered electron imaging (qBEI) revealed an increased void volume (porosity, p<0. Read More

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Imaging of Chronic Kidney Disease-Mineral and Bone Disorder.

Radiol Clin North Am 2022 Jul;60(4):547-559

Department of Radiology, Manchester Royal Infirmary, Oxford Road, Manchester M13 9WL, UK.

The characteristic radiological appearances of metabolic bone and soft tissue diseases in chronic renal failure are described and illustrated in the context of advancing understanding of the complex metabolic changes that occur in chronic kidney disease and its management. Read More

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Phosphaturic Mesenchymal Tumor.

AJNR Am J Neuroradiol 2022 06 19;43(6):817-822. Epub 2022 May 19.

From the Department of Radiology (J.C.B. D.R.D.), Mayo Clinic, Rochester, Minnesota.

Phosphaturic mesenchymal tumors (PMTs) are neoplasms associated with tumor-induced osteomalacia. Patients typically present with pathologic fractures in the setting of chronic hypophosphatemic hyperphosphaturic osteomalacia, as well as gradual muscle weakness, bone pain, and difficulty walking. Because of their rarity and nonspecific symptomatology, phosphaturic mesenchymal tumors often go undiagnosed for years. Read More

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Disorders of phosphate homeostasis in children, part 2: hypophosphatemic and hyperphosphatemic disorders.

Richard M Shore

Pediatr Radiol 2022 May 10. Epub 2022 May 10.

Department of Medical Imaging, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Ave., Chicago, IL, 60611, USA.

Phosphorus, predominantly in the form of inorganic phosphate PO, has many essential physiological functions. In the skeleton, phosphate and calcium form the mineral component and phosphate is also essential in regulating function of skeletal cells. Considerable advances have been made in our understanding of phosphate homeostasis since the recognition of fibroblast growth factor-23 (FGF23) as a bone-derived phosphaturic hormone. Read More

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Bone microstructure evaluated by TBS and HR-pQCT in Chinese adults with X-linked hypophosphatemia.

Bone 2022 07 18;160:116423. Epub 2022 Apr 18.

Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China. Electronic address:

X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. Although generalized mineralization defects have been observed, elevated areal bone mineral density (aBMD) in the lumbar spine measured by dual-energy X-ray absorptiometry (DXA) has also been found in XLH. In contrast, high-resolution peripheral quantitative computed tomography (HR-pQCT) revealed lower volumetric BMD (vBMD) and damaged bone microstructure in the peripheral bone in XLH. Read More

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Lower limb bone geometry in adult individuals with X-linked hypophosphatemia: an observational study.

Osteoporos Int 2022 Jul 18;33(7):1601-1611. Epub 2022 Apr 18.

Orthopaedic Department, University of Würzburg, Wurzburg, Germany.

We assessed lower-limb geometry in adults with X-linked hypophosphatemia (XLH) and controls. We found large differences in multiple measures including femoral and tibial torsion, bowing and cross-sectional area and acetabular version and coverage which may contribute to clinical problems such as osteoarthritis, fractures and altered gait common in XLH.

Purpose: Individuals with X-linked hypophosphatemia (XLH) are at risk of lower-limb deformities and early onset of osteoarthritis. Read More

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X-linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro.

Mol Genet Genomic Med 2022 06 6;10(6):e1941. Epub 2022 Apr 6.

Medical Genetic Service, Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.

Background: X-linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing.

Methods: Through a cross-sectional and observational study, 26 patients with a previously presumptive diagnosis of X-linked hypophosphatemic rickets (based on clinical history, laboratory findings, and physical examination), were followed for approximately 12 months. During 12 months of follow-up, only 16 patients underwent genetic testing and enrolled in the study. Read More

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Pathological fractures leading to the incidental diagnosis of rickets.

Mohammed Abrahim

Can J Rural Med 2022 Apr-Jun;27(2):69-71

Division of Emergency Medicine, Department of Family Medicine, McMaster University, Hamilton, Ontario, Canada.

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Metabolic Bone Disease of Infancy in the offspring of mothers with bariatric surgery: A series of 5 infants in contested cases of child abuse.

Clin Nutr ESPEN 2022 04 18;48:227-233. Epub 2022 Feb 18.

PRAD, PLLC, Peoria, IL, USA.

Background And Aims: Metabolic Bone Disease of Infancy is a multifactorial disorder of bone fragility in infants who typically present under 6 months of age with multiple unexplained fractures. Major risk factors for this disorder relate to the fetal time period and include decreased provision of the essential nutrients for bone formation during pregnancy (calcium, phosphate, vitamin D, and protein), prematurity, and decreased fetal bone loading.

Methods: This study presents 5 infants with multiple unexplained fractures born to women who had prior bariatric surgery in which child abuse was alleged, and the alleged perpetrator denied wrong doing. Read More

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Improvement of Mineral and Bone Disorders After Renal Transplantation.

Transplantation 2022 05 8;106(5):e251-e261. Epub 2022 Mar 8.

Nephrology Department, Hospital Curry Cabral, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal.

Background: Posttransplant mineral and bone diseases are causes of fractures, and their association with cardiovascular events is being studied.

Methods: We analyzed the evolution of biochemical, histological, and imaging parameters pre- and 1 y post-renal transplantation in 69 patients and correlated mineral and bone findings with coronary calcifications. At inclusion and after 12 mo, clinical data and echocardiographic findings were recorded, and laboratory evaluations, radiography of the pelvis and hands, and bone biopsy were performed. Read More

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FGF-23 transmitted tumor - induced hypophosphatemic osteomalacia: A rare case of a young woman with recurrent fractures and review of the literature.

J Bone Oncol 2022 Apr 29;33:100413. Epub 2022 Jan 29.

Bone and Soft Tissue Tumor Center of the University of Basel (KWUB), Spitalstrasse 33, Basel 4056, Switzerland.

We present a case of tumor-induced osteomalacia (TIO) in a young woman of 22 years. The fibroblast growth factor 23 transmitting tumor in her left foot remained undetected for several years. She suffered several fractures including insufficiency fractures of both femoral necks requiring bilateral proximal femoral nailing. Read More

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[Tumor localization and treatment of tumor-induced osteomalacia].

Z Rheumatol 2022 Apr 1;81(3):182-188. Epub 2022 Feb 1.

Institut für Osteologie und Biomechanik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland.

Tumor-induced osteomalacia (TIO) or oncogenic osteomalacia (OOM) is a rare paraneoplastic renal phosphate wasting syndrome. The disease is mostly triggered by small, benign mesenchymal tumors that express somatostatin receptors (SSTR) and produce excessive levels of fibroblast growth factor 23 (FGF 23) or other phosphatonins. These reduce the phosphate back resorption in the proximal tubules of the kidneys, thereby causing hypophosphatemia and lead to an absolute or relatively low calcitriol serum concentration. Read More

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Tumor-induced osteomalacia: a case report.

J Med Case Rep 2022 Jan 12;16(1):22. Epub 2022 Jan 12.

Division of Endocrinology, Department of Medicine, Faculty of Health Sciences, Groote Schuur Hospital and University of Cape Town, J47-85 Old Main Building, Private Bag X3, Observatory, Cape Town, 7935, South Africa.

Background: Tumor-induced osteomalacia is a rare, acquired paraneoplastic syndrome, including hypophosphatemia, high serum alkaline phosphatase, reduced active vitamin D, suboptimal bone mineral density, bone pain, fragility fractures, and muscle weakness.

Case Presentation: We report a case of 74-year-old male of mixed ancestry with hypophosphatemia resistant to treatment despite optimal compliance, associated with profound reduction of bone mineral density and multiple nontraumatic fractures, including bilateral rib fractures, lower-thoracic (T11, T12) vertebrae, and two fractures involving the surgical and anatomical neck of the right humerus. We discuss an approach to identifying the underlying cause of hypophosphatemia associated with fragility fractures, and options for management of this rare condition. Read More

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January 2022

[Periodontal status evaluation in adolescents with hereditary rickets-like diseases].

Stomatologiia (Mosk) 2021 ;100(6):63-69

Tashkent State Dental Institute, Tashkent, Uzbekistan.

Background: Hypophosphatemic rickets (HPPR) and hypophosphatasia (HPP) are hereditary pathologies accompanied by phosphorus metabolism problems and rickets deformities of the skeleton. Periodontal diseases, their diagnostic methods and factors affecting the progress of periodontal tissue damage are the least studied among the dental manifestations of HPPR and HPP.

Objective: The aim of present cohort study was evaluation of periodontal tissue status in adolescents with HPPR and HPP. Read More

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December 2021

Adverse Consequences of Chronic Kidney Disease on Bone Health in Children.

Semin Nephrol 2021 09;41(5):439-445

Department of Pediatrics, University of California San Francisco, San Francisco, CA.

Chronic kidney disease (CKD) mineral bone disorder has long-term effects on skeletal integrity and growth. Abnormalities in serum markers of mineral metabolism are evident early in pediatric CKD. Bone deformities, poor linear growth, and high rates of fractures are common in children with CKD. Read More

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September 2021

Diagnosis of bone abnormalities in CKD-MBD (Imaging and bone biopsy).

J Bras Nefrol 2021;43(4 Suppl 1):621-627. Epub 2021 Dec 3.

Universidade de São Paulo, Pathophysiology Laboratory (LIM-16), Hospital das Clínicas da Faculdade de Medicina da USP, São Paulo, SP, Brazil.

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February 2022

Imaging findings of vitamin deficiencies: are they forgotten diseases?

BJR Open 2021 24;3(1):20210011. Epub 2021 Nov 24.

Department of Radiology, Shiga University of Medical Science, Shiga, Japan.

Vitamin deficiency is rare in modern industrialised countries; however, it still occurs in patients with specific backgrounds, such as those with extremely unbalanced diets, those with alcoholism and those who have undergone gastrointestinal surgery. Imaging examinations that demonstrate classic findings confirm the clinical diagnosis of vitamin deficiency and help monitor response to treatment. Because vitamin deficiencies are not prevalent, the diagnosis might not be straightforward. Read More

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November 2021

Tumour-induced osteomalacia due to thymolipoma.

Natl Med J India 2021 May-Jun;34(3):189-190

Department of Surgery, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

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December 2021

Favorable effects of burosumab on tumor-induced osteomalacia caused by an undetectable tumor: A case report.

Medicine (Baltimore) 2021 Nov;100(46):e27895

Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

Rationale: Tumor-induced osteomalacia (TIO) is curable by tumor resection, but detection of the tumor can be challenging. Overproduction of fibroblast growth factor 23 (FGF23) by the tumor causes hypophosphatemia and consequently induces inappropriate bone turnover. Conventionally oral phosphate supplementation was the only treatment for TIO, but had risks of hypercalciuria and nephrocalcinosis. Read More

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November 2021

Bone Impairment in a Large Cohort of Chinese Patients With Tumor-Induced Osteomalacia Assessed by HR-pQCT and TBS.

J Bone Miner Res 2022 03 3;37(3):454-464. Epub 2022 Jan 3.

Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by excessive production of fibroblast growth factor 23 (FGF23) by a tumor. Previous studies have revealed generalized mineralization defects and low areal bone mineral density (aBMD) in TIO. However, data on the bone microarchitecture in TIO are limited. Read More

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Changes in Bone Mineral Density Following Conventional Oral Phosphonate Treatment of Hypophosphatemic Osteomalacia: A Non-Randomized Controlled Study.

Int J Gen Med 2021 8;14:7925-7931. Epub 2021 Nov 8.

National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory of Metabolic Bone Diseases, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, Changsha, 410011, Hunan, People's Republic of China.

Purpose: There are limited clinical studies aimed at solving the problem of the efficiency of conventional treatment with oral phosphate and calcitriol in adults with hypophosphatemic osteomalacia (HO). In addition, there still had no good non-hazardous markers to evaluate the severity of bone loss of osteomalacia before and after treatment. Therefore, the purpose of this study was to assess the efficacy of conventional treatment with a self-blended phosphate supplementation and calcitriol on patients with HO and whether bone mineral density (BMD) can be helpful for monitoring the efficacy. Read More

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November 2021

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia.

Front Endocrinol (Lausanne) 2021 27;12:754084. Epub 2021 Sep 27.

Vienna Bone and Growth Center, Vienna, Austria.

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired. This study aimed to assess lower limb deformity, specific radiographic changes, and gait deviations among adolescents and adults with XLH. Read More

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February 2022

Contribution of imaging to the diagnosis and follow up of X-linked hypophosphatemia.

Arch Pediatr 2021 Oct 26;28(7):594-598. Epub 2021 Sep 26.

Université de Paris Saclay, AP-HP, Centre de Référence des maladies rares du métabolisme du Calcium et du Phosphate, filière OSCAR, service d'endocrinologie et diabète de l'enfant, hôpital Bicêtre Paris Saclay, Le Kremlin Bicêtre, France.

X-linked hypophosphatemia (XLH) is the most common form of inheritable rickets. The disease is caused principally by PHEX mutations leading to increased concentrations of circulating intact FGF23, hence renal phosphate wasting, hypophosphatemia, and decreased circulating levels of 1,25(OH) vitamin D. The chronic hypophosphatemia leads to rickets and osteomalacia through a combination of mechanisms, including a lack of endochondral ossification and impaired mineralization. Read More

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October 2021

Radiotherapy for a rare phosphaturic mesenchymal tumor in the middle ear presenting with oncogenic osteomalacia: A case report.

Medicine (Baltimore) 2021 Sep;100(38):e27284

Department of Radiation Oncology, Narita Memorial Proton Center, Toyohashi, Japan.

Rationale: Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm causing oncogenic osteomalacia. Surgery remains the definitive treatment for PMT, and radiotherapy is seldom employed. However, surgery for PMT involving the head and neck is often difficult due to the local invasion and complicated anatomy. Read More

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September 2021

Triad signs shown by bone scintigraphy in FGF23-related osteomalacia.

QJM 2022 Jan;114(12):887-888

Department of General Medicine, Okayama University Graduate School of Medicine , Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.

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January 2022

Genu valgum deformity - correction by a wedgeless implantless femoral "V" osteotomy.

Acta Orthop Belg 2021 Jun;87(2):247-254

Coronal malalignment of the knee joint is very common in developing countries especially because of nutritional rickets. Significant valgus deformity needs to be treated surgically to improve appearance, gait and function of the patient. The purpose of this prospective study was to evaluate the results of supracondylar "V" osteotomy as a surgical technique for correction of the valgus knee deformity. Read More

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Update on imaging in chronic kidney disease-mineral and bone disorder: promising role of functional imaging.

Skeletal Radiol 2022 May 15;51(5):905-922. Epub 2021 Sep 15.

Antwerp University Hospital Belgium, Edegem, Belgium.

Disorders of mineral metabolism and bone disease are common complications in chronic kidney disease (CKD) patients and are associated with increased morbidity and mortality. Bone biopsies, bone scintigraphy, biochemical markers, and plain films have been used to assess bone disorders and bone turnover. Of these, functional imaging is less invasive than bone/marrow sampling, more specific than serum markers and is therefore ideally placed to assess total skeletal metabolism. Read More

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Conductive Hearing Loss in the Hyp Mouse Model of X-Linked Hypophosphatemia Is Accompanied by Hypomineralization of the Auditory Ossicles.

J Bone Miner Res 2021 12 4;36(12):2317-2328. Epub 2021 Oct 4.

Department of Trauma and Orthopaedic Surgery, Division of Orthopaedics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

X-linked hypophosphatemia (XLH) is a hereditary musculoskeletal disorder caused by loss-of-function mutations in the PHEX gene. In XLH, increased circulating fibroblast growth factor 23 (FGF23) levels cause renal phosphate wasting and low concentrations of 1,25-dihydroxyvitamin D, leading to an early clinical manifestation of rickets. Importantly, hearing loss is commonly observed in XLH patients. Read More

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December 2021

Tumor-induced osteomalacia - a mystery illness beyond aches, pains, and depression.

Endocr Regul 2021 Sep 13;55(3):163-168. Epub 2021 Sep 13.

Endocrinology Department, Sutherland Hospital, Sydney, NSW, Australia.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by chronic hypophosphatemia and osteomalacia. We present case of a patient with a protracted clinical course of TIO. TIO profoundly affected every aspect of his life with subsequent profound physical and psychosocial disabilities. Read More

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September 2021

Invasive myocardial calcification of left ventricle associated with conduction disturbances, hypophosphatemia, and childhood rickets.

Anatol J Cardiol 2021 Sep;25(9):E34-E35

Department of Cardiovascular Surgery, Faculty of Medicine, Hacettepe University; Ankara-Turkey.

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September 2021