OSTEOMALACIE PDF

Osteomalacia is a disease characterized by the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate , calcium , and vitamin D , or because of resorption of calcium. The impairment of bone metabolism causes inadequate bone mineralization. Osteomalacia in children is known as rickets , and because of this, use of the term "osteomalacia" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones. In addition to low systemic levels of circulating mineral ions necessary for bone and tooth mineralization, accumulation of mineralization-inhibiting proteins and peptides such as osteopontin and ASARM peptides occurs in the extracellular matrix of bones and teeth, likely contributing locally to cause matrix hypomineralization osteomalacia.

Author:JoJozragore Sajora
Country:Malaysia
Language:English (Spanish)
Genre:Spiritual
Published (Last):26 September 2006
Pages:114
PDF File Size:6.40 Mb
ePub File Size:20.80 Mb
ISBN:143-4-59528-673-8
Downloads:30338
Price:Free* [*Free Regsitration Required]
Uploader:Daizshura



Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant.

It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children. The prevalence of the disease is not known. Since the association between phosphate reabsorption and tumor was first made, approximately cases of oncogenic osteomalacia have been reported in the literature.

Disease onset typically is in adulthood, with mean age of 45 years of age, although a few pediatric cases have been reported. Typical features are chiefly related to chronic hypophosphatemia caused by hyperphosphaturia.

The causative tumors are typically small and benign, occur in either bone or soft tissue, and cause no local symptoms. Patients usually present with symptoms of isolated hypophosphatemia. This means that the diagnosis is usually made late, and even when it is, the tumors are often not found. Typically, both calcium and parathyroid hormone levels are normal, as is the serum 25 hydroxyvitamin D 25OH vitamin D concentration.

Osteomalacia causes bone pain and can lead to pathological fractures or rickets in young patients where the epiphyses have not matured.

Severe hypophosphatemia can cause muscle weakness. This syndrome is caused by phosphatonin secretion by the causative tumor. Classically the phosphatonin is FGF Fibroblast Growth Factor 23 , other phosphatonins Matrix Extracellular Phosphoglycoprotein - MEPE and secreted frizzled-related protein 4 - sFRP4 appear to have the same biochemical effect, and were, in fact discovered by examination of patients with these tumors.

FGF causes urinary phosphate wasting by downregulating the main renal phosphate reabsorption transporter, the type 2 sodium-phosphate cotransporter NaPi2a , localized in the proximal tubule. FGF overexpression may also affect bone mineralization by suppressing osteoblast differentiation. The finding of isolated hypophosphatemia, urinary phosphate wasting in the absence of the renal Fanconi syndrome and without hereditary hypophosphatemic rickets, should prompt the search for a causative tumor.

All imaging should be whole body vertex to toes. Differential diagnosis may include other forms of hypophosphatemic osteomalacia X-linked, autosomal dominant or recessive hypophosphatemic rickets as well as primary or acquired renal Fanconi syndrome.

Definitive treatment is with surgical resection of the tumor. If the tumor cannot be found or removed, medical treatment involves the supplementation of phosphate and active vitamin D e. Radiotherapy may be helpful if the tumor is located but is non-resectable for anatomical reasons. A new anti-FGF23 monoclonal antibody has been promising in the treatment of X-linked hypophosphatemic rickets, and may therefore be effective in FGF mediated oncogenic osteomalacia; however, this remains to be proven.

Excellent recovery after complete tumor excision with complete resolution of symptoms and biochemical abnormalities. Long term monitoring is required as local recurrence and metastases have been reported, even if rarely. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Disease definition A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant.

Summary Epidemiology The prevalence of the disease is not known. Clinical description Disease onset typically is in adulthood, with mean age of 45 years of age, although a few pediatric cases have been reported. Etiology This syndrome is caused by phosphatonin secretion by the causative tumor.

Diagnostic methods The finding of isolated hypophosphatemia, urinary phosphate wasting in the absence of the renal Fanconi syndrome and without hereditary hypophosphatemic rickets, should prompt the search for a causative tumor. Differential diagnosis Differential diagnosis may include other forms of hypophosphatemic osteomalacia X-linked, autosomal dominant or recessive hypophosphatemic rickets as well as primary or acquired renal Fanconi syndrome.

Management and treatment Definitive treatment is with surgical resection of the tumor. Prognosis Excellent recovery after complete tumor excision with complete resolution of symptoms and biochemical abnormalities.

Additional information Further information on this disease Classification s 3 Gene s 0 Other website s 0. Health care resources for this disease Expert centres Diagnostic tests 0 Patient organisations 14 Orphan designation s and orphan drug s 1. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

DNF ST300 PDF

osteomalacie

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children. The prevalence of the disease is not known. Since the association between phosphate reabsorption and tumor was first made, approximately cases of oncogenic osteomalacia have been reported in the literature.

ASTM C1271 PDF

Osteomalacia

Improvement was obtained with bicarbonates, vitamin D, calcium and high-dose steroid therapy. Tnani, A. Massoumi, O. Lortholary, P. Soussan, J. Prinseau, A. Baglin, T.

BD137 10 PDF

.

Related Articles