6,745 results match your criteria Osteomalacia and Renal Osteodystrophy
Front Endocrinol (Lausanne) 2018 21;9:666. Epub 2018 Nov 21.
Experimental Trauma Surgery, Faculty of Medicine, Justus-Liebig University of Giessen, Giessen, Germany.
Bone histomorphometry allows quantitative evaluation of bone micro-architecture, bone formation, and bone remodeling by providing an insight to cellular changes. Histomorphometry plays an important role in monitoring changes in bone properties because of systemic skeletal diseases like osteoporosis and osteomalacia. Besides, quantitative evaluation plays an important role in fracture healing studies to explore the effect of biomaterial or drug treatment. Read More
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
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
Zhonghua Nei Ke Za Zhi 2018 Dec;57(12):935-937
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
Best Pract Res Clin Endocrinol Metab 2018 Oct 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
Clin Calcium 2018 ;28(11):1451-1455
Fujii Memorial Institute of Medical Sciences, Institute of Advanced Medical Sciences, Tokushima University, Japan.
Tumor-induced osteomalacia(TIO)is a paraneoplastic syndrome caused by excessive production and secretion of fibroblast growth factor 23(FGF23)from causative tumors which induces hypophosphatemia and osteomalacia. Mesenchymal benign tumors in bone or soft tissue are the most frequent causes for TIO. The first choice treatment of TIO is complete resection of the responsible tumors. Read More
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
J Assoc Physicians India 2018 Apr;66(4):81-84
Concultant Histopathologist (Raheja Hospital), Dr. Gokhale's Clinic and Arthritis Center, Mumbai, Maharashtra.
We report a 45 years old woman, bedridden due to severe bone pain, back pain, multiple spontaneous fractures over 10 years. She had low serum Phosphates. We detected a swelling in her right groin and suspected tumour induced osteomalacia. Read More
Best Pract Res Clin Gastroenterol 2018 Jun - Aug;34-35:63-70. Epub 2018 Jun 14.
Department of Rheumatology, Metabolic Bone Diseases Unit, Hospital Clínic, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain.
Osteoporosis, characterized by compromised bone strength leading to fragility fractures, is a common event in patients with primary biliary cholangitis (PBC). Osteomalacia, defined by poor bone mineralization is very uncommon. The pathogenesis of osteoporosis is not well clarified, but it mainly results from low bone formation. Read More
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
Intern Med 2018 Oct 17. Epub 2018 Oct 17.
Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Science, Japan.
A 68-year-old man with type 2 diabetes mellitus and chronic hepatitis B infection was referred to the nephrology department before planned surgery for hepatocellular carcinoma. He had been receiving low-dose adefovir dipivoxil (ADV) for 11 years. Laboratory findings revealed impaired re-absorption in the proximal renal tubules. Read More
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
Eur J Trauma Emerg Surg 2018 Oct 11. Epub 2018 Oct 11.
Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Goethe University Frankfurt, Frankfurt am Main, Germany.
Background: Epilepsy-related injuries and accidents (ERIA) are a frequent cause of hospitalisation and represent a relevant burden for patients with epilepsy. In particular, osteoporosis and other gender-specific aspects may increase the risk of seizure-related fractures and injuries in women with epilepsy.
Aim And Scope: The aim of this analysis is to determine the prevalence and clinical nature of ERIA in a cohort of women with epilepsy, to identify possible determinants including osteoporosis and to give an overview of the current knowledge of clinically important prophylactic and therapeutic aspects. Read More
Intern Med J 2018 Dec;48(12):1435-1446
Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
The metabolic abnormalities affecting bone in the setting of chronic kidney disease (CKD) are complex with overlapping and interacting aetiologies and have challenging diagnostic and management strategies. Disturbances in calcium, phosphate, fibroblast growth factor 23, parathyroid hormone concentrations and vitamin D deficiency are commonly encountered and contribute to the clinical syndromes of bone disorders in CKD, including hyperparathyroidism, osteomalacia, osteoporosis and adynamic bone disease. Mineral and bone abnormalities may also persist or arise de novo post-renal transplantation. Read More
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
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
Int J Numer Method Biomed Eng 2018 Oct 3:e3160. Epub 2018 Oct 3.
Department of Civil Engineering, Indian Institute of Technology Delhi, Hauz Khas, New Delhi, 110016, India.
Directly bonded piezo sensor, conventionally employed in the electromechanical impedance (EMI) technique, although a proven candidate for structural health monitoring, is severely constrained in its application in the biomedical field due to its bonding requirement. In contrast, nonbonded piezo sensor (NBPS) provides a viable platform to assess the condition of human bones, tissues, and other biomedical subjects using the EMI technique without inflicting pain or irritation to the skin. The name NBPS was coined to emphasize that there was no direct bonding between the PZT patch and the live subject; instead, the PZT patch was bonded to a supporting medium, which maintains the mechanical interaction between the PZT patch and the subject. Read More
Clin Nucl Med 2018 Dec;43(12):880-886
Objective: Ga-DOTATATE PET/CT is currently the most common imaging modality in localizing culprit tumors, which can result in tumor-induced osteomalacia (TIO). Fracture, which is one of the most common consequences of the TIO, can also lead to increased Ga-DOTATATE activity and potentially affect the accuracy of Ga-DOTATATE PET/CT imaging. The aim of this investigation is to evaluate whether the increased Ga-DOTATATE activity at the sites of the fracture will cause interpretation difficulty in the localizing the culprit tumor causing TIO. Read More
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
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
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
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
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
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
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
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
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
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
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
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
J Bone Miner Metab 2018 Sep 20. Epub 2018 Sep 20.
UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Congenital hypophosphataemia (CH) is a collection of disorders that cause defective bone mineralisation manifesting with rickets in childhood and osteomalacia in adulthood. Bone turnover markers (BTMs) are surrogate measures of metabolic bone disease severity. We explored the utility of BTMs in 27 adults with CH: 23 had X-linked hypophosphataemia (XLH), of whom 2 were hypoparathyroid post-total parathyroidectomy (PTx); 2 had autosomal dominant hypophosphataemic rickets (ADHR), and 2 had none of the known mutations. Read More
Osteoporos Int 2018 Sep 13. Epub 2018 Sep 13.
Department of Pediatrics, Division of Diabetes, Endocrinology, and Metabolism, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Hypophosphatasia (HPP) typically manifests with fractures, tooth loss, and muscle pain. Although mental health diagnoses and neurological symptoms have not been previously well documented in HPP, they occur commonly. The recognition of non-traditional symptoms may improve patient satisfaction, preempt costly evaluation and misdiagnosis, and lead to further treatment options. Read More
Mod Pathol 2018 Sep 11. Epub 2018 Sep 11.
Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, China.
Information on the heterogeneity of phosphaturic mesenchymal tumor, a rare entity associated with tumor-induced osteomalacia, is limited. In this retrospective analysis of 222 phosphaturic mesenchymal tumors, 22 cases exhibited mixed mesenchymal and epithelial elements, which we propose to term "phosphaturic mesenchymal tumor, mixed epithelial, and connective tissue type." Phosphaturic mesenchymal tumor of the mixed epithelial and connective tissue type showed a distinctive and significant male predominance (male:female = 2. Read More
Medicine (Baltimore) 2018 Sep;97(36):e12027
Department of Nephrology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang.
Rationale: Renal Fanconi syndrome (FS) is a rare complication of monoclonal gammopathy. It is characterized by the impairment of renal proximal tubular function leading to normoglycemic glycosuria, aminoaciduria, hypophosphatemia, hypouricemia and proximal renal tubular acidosis. Renal impairment in monoclonal gammopathy, without fulfilling the criteria of multiple myeloma, is categorized as monoclonal gammopathy of renal significance (MGRS). Read More
Endocr Res 2018 Sep 10:1-19. Epub 2018 Sep 10.
c Department of Medicine , University of Texas Health Science Center at San Antonio , San Antonio , TX , USA.
Purpose: The purpose of this article is to review recent literature regarding endocrine disorders related to celiac disease (CD).
Methods: We describe a case report and review existing literature on the endocrine manifestations of CD.
Results: CD is an autoimmune disorder characterized by intestinal inflammation in response to gluten. Read More
BMC Nephrol 2018 Sep 4;19(1):220. Epub 2018 Sep 4.
Department of Nephrology, Radboud university medical center, Nijmegen, The Netherlands.
Background: Isolated renal hypophosphatemia may be inherited or acquired. An increasing number of patients with unexplained renal hypophosphatemia is being referred to our clinics, but the optimal diagnostic work-up is not known. Therefore, the aim of this study was to assess the diagnostic yield in these patients. Read More
Transplant Proc 2018 Sep 13;50(7):2100-2104. Epub 2018 Mar 13.
2nd Department of Nephrology, Medical University of Bialystok, Bialystok, Poland.
Background: One of the main actions of vitamin D is bone mineralization regulation. Vitamin D is linked also to hypertension, diabetes, and cardiovascular disease. Vitamin D deficiency may result in osteomalacia, but its excess may result in bone calcium mobilization. Read More
Osteoporos Int 2018 Aug 31. Epub 2018 Aug 31.
Division of Nephrology, Kaohsiung Veterans General Hospital, 386 Ta-Chung 1st Rd., Kaohsiung, 813, Taiwan.
Denosumab, a novel agent that inhibits osteoclasts, reduces the risk of fracture in patients with osteoporosis. However, worsening of hypophosphatemia and other symptoms may be induced by denosumab in patients with pre-existing hypophosphatemic osteomalacia. A 58-year-old man with hepatitis B presented with diffuse bone pain and muscle weakness. Read More
Osteoporos Int 2018 Aug 27. Epub 2018 Aug 27.
Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.
Raine syndrome is characterized by FGF23-mediated hypophosphatemic osteomalacia with osteosclerosis caused by mutations in the FAM20C gene. We report a case of a 72-year-old man who presented with rapid progressive spontaneous osteonecrosis of the knee (SONK). A full osteologic assessment including dual energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses revealed a high bone mass in the lumbar spine and hip (DXA T-score + 7. Read More
Pol Arch Intern Med 2018 Sep 24;128(9):554-555. Epub 2018 Aug 24.
Am J Phys Anthropol 2018 Nov 21;167(3):484-496. Epub 2018 Aug 21.
Department of Anthropology, McMaster University, Hamilton, Ontario, Canada.
Objectives: The aims of the study are to investigate the effects of latitude, settlement type, age, and sex on the prevalence of vitamin D deficiency disease in the Roman Empire using human skeletal remains from cemetery sites (1st to 6th cent. AD).
Materials And Methods: Data from 2,787 individuals (1,143 subadults, 1,644 adults) from 18 cemeteries associated with 15 different settlements in the Mediterranean and north-western Europe were analyzed. Read More
Open Rheumatol J 2018 24;12:114. Epub 2018 Jul 24.
Department of Endocrinology, Diabetes and Metabolism, Christian Medical College and Hospital, Vellore-632004, India.
Front Med (Lausanne) 2018 31;5:211. Epub 2018 Jul 31.
Division of Nephrology and Solid-Organ Transplantation, Michael E. DeBakey VA Medical Center, Houston, TX, United States.
The risk of mineral and bone disorders among patients with chronic kidney disease is substantially elevated, owing largely to alterations in calcium, phosphorus, vitamin D, parathyroid hormone, and fibroblast growth factor 23. The interwoven relationship among these minerals and hormones results in maladaptive responses that are differentially affected by the process of kidney transplantation. Interpretation of conventional labs, imaging, and other fracture risk assessment tools are not standardized in the post-transplant setting. Read More
Rheumatology (Oxford) 2018 Dec;57(12):2242-2243
Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
Intern Med 2018 Aug 10. Epub 2018 Aug 10.
Department of Nephrology, Osaka University Graduate School of Medicine, Japan.
We present a case of Dent disease caused by a novel intronic mutation, 1348-1G>A, of the chloride voltage-gated channel 5 (CLCN5) gene. Cultured proximal tubule cells obtained from the patient showed impaired acidification of the endosome and/or lysosome, indicating that the 1348-1G>A mutation was indeed the cause of Dent disease. Although the prevalence of osteomalacia in Dent disease is low in Japan, several factors-including poor medication adherence-caused severe osteomalacia in the current case. Read More
Z Rheumatol 2018 Oct;77(8):703-718
St. Josef-Stift Sendenhorst, Klinik für Rheumatologie, Nordwestdeutsches Rheumazentrum, Westtor 7, 48324, Sendenhorst, Deutschland.
Osteomalacia is a bone disease caused by impaired skeletal mineralization. Vitamin D dependent types have to be distinguished from hypophosphatemic forms. Typical signs and symptoms include diffuse bone pain, muscle weakness and fragility fractures. Read More
Cureus 2018 Jun 5;10(6):e2741. Epub 2018 Jun 5.
Internal Medicine, Hackensack Meridian - Ocean Medical Center, Edison, USA.
Introduction 1,25-dihydroxyvitamin D3 (cholecalciferol), the hormonally active form of vitamin D3, is a lipid-soluble compound that plays a significant role in clinical medicine due to its potent effects on calcium homeostasis and bone metabolism. Since foods containing natural vitamin D are rare, the primary source of the compound remains its nonenzymatic dermal synthesis through exposure to ultraviolet rays in sunlight. Although uncommon in most developed countries, recent literature has demonstrated that subclinical vitamin D deficiency can exist in certain populations and plays a role in downstream clinical consequences, including cardiovascular disease, cancer, diabetes, osteoporosis, and fractures. Read More
Lancet Oncol 2018 Jul 29;19(7):e365. Epub 2018 Jun 29.
UCL Centre for Nephrology, Royal Free Hospital, University College London, London, UK. Electronic address:
Cureus 2018 May 31;10(5):e2722. Epub 2018 May 31.
Endocrinology, All India Institute of Medical Sciences, New Delhi, IND.
Brown tumor is a non-neoplastic fibro-cystic expansile bone lesion caused by parathyroid hormone excess. It has been commonly described in patients with primary hyperparathyroidism and secondary hyperparathyroidism due to chronic kidney disease. However, it is very rare to encounter a brown tumor in the setting of nutritional vitamin D deficiency. Read More