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FGF23
Fibroblast growth factor 23 (FGF23) is a protein and member of the fibroblast growth factor (FGF) family which participates in the regulation of phosphate in plasma and vitamin D metabolism. In humans it is encoded by the gene. FGF23 decreases reabsorption of phosphate in the kidney. Mutations in ''FGF23'' can lead to its increased activity, resulting in autosomal dominant hypophosphatemic rickets. Description Fibroblast growth factor 23 (FGF23) is a protein which in humans is encoded by the gene. FGF23 is a member of the fibroblast growth factor (FGF) family which participates in phosphate and vitamin D metabolism and regulation. Function FGF23´s main function is to regulate the phosphate concentration in plasma. It does this by decreasing reabsorption of phosphate in the kidney, which means phosphate is excreted in urine. FGF23 is secreted by osteocytes in response to increased calcitriol. FGF23 acts on the kidneys by decreasing the expression of NPT2, a sodium-phosphate c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tumor-induced Osteomalacia
Oncogenic osteomalacia, also known as oncogenic hypophosphatemic osteomalacia, is an uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia. It may be caused by a phosphaturic mesenchymal tumor. Signs and symptoms Adult patients may present with worsening musculoskeletal symptoms, muscle weakness, myalgias, bone pains and fatigue which are followed by recurrent fractures. Children present with difficulty in walking, stunted growth and deformities of the skeleton (features of rickets). There can also be a significant delay between the beginning of symptoms to diagnosis, which research reflects as being between 2.5 to 28 years. Cause Tumor-induced osteomalacia is usually referred to as a paraneoplastic phenomenon, however, the tumors are usually benign and the symptomatology is due to osteomalacia or rickets. A benign mesenchymal or mixed connective tissue tumor (usually phosphaturic mesenchymal tumor and hemangiopericytoma) are the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Hypophosphatemia
X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow-leggedness). It is associated with a mutation in the '' PHEX'' gene sequence (Xp.22) and subsequent inactivity of the PHEX protein. ''PHEX'' mutations lead to an elevated circulating (systemic) level of the hormone FGF23 which results in renal phosphate wasting, and locally in the extracellular matrix of bones and teeth an elevated level of the mineralization/calcification-inhibiting protein osteopontin. An inactivating mutation in the PHEX gene results in an increase in systemic circulating FGF23, and a decrease in the enzymatic activity of the PHEX enzyme which normally removes (degrades) mineralization-inhibiting osteopontin protein; in XLH, the decreased PHEX enzyme activity leads to an accumulation of inhibit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Klotho (biology)
Klotho is an enzyme that in humans is encoded by the ''KL'' gene. There are three subfamilies of klotho: α-klotho, β-klotho, and γ-klotho. α-klotho activates FGF23, and β-klotho activates FGF19 and FGF21. When the subfamily is not specified, the word "klotho" often means the α-klotho subfamily, because α-klotho was discovered before the other subfamily members. α-klotho is highly expressed in the brain, liver and kidney. β-klotho is predominantly expressed in the liver. γ-klotho is expressed in the skin. Klotho can exist in a membrane-bound form or a (hormonal) soluble, circulating form. Proteases can convert the membrane-bound form into the circulating form. The ''KL'' gene encodes a type-I single-pass transmembrane protein that is related to β-glucuronidases. Reduced production of this protein has been observed in patients with chronic kidney failure (CKF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteopor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tumor-induced Osteomalacia
Oncogenic osteomalacia, also known as oncogenic hypophosphatemic osteomalacia, is an uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia. It may be caused by a phosphaturic mesenchymal tumor. Signs and symptoms Adult patients may present with worsening musculoskeletal symptoms, muscle weakness, myalgias, bone pains and fatigue which are followed by recurrent fractures. Children present with difficulty in walking, stunted growth and deformities of the skeleton (features of rickets). There can also be a significant delay between the beginning of symptoms to diagnosis, which research reflects as being between 2.5 to 28 years. Cause Tumor-induced osteomalacia is usually referred to as a paraneoplastic phenomenon, however, the tumors are usually benign and the symptomatology is due to osteomalacia or rickets. A benign mesenchymal or mixed connective tissue tumor (usually phosphaturic mesenchymal tumor and hemangiopericytoma) are the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibroblast Growth Factor
Fibroblast growth factors (FGF) are a family of cell signalling proteins produced by macrophages; they are involved in a wide variety of processes, most notably as crucial elements for normal development in animal cells. Any irregularities in their function lead to a range of developmental defects. These growth factors typically act as systemic or locally circulating molecules of extracellular origin that activate cell surface receptors. A defining property of FGFs is that they bind to heparin and to heparan sulfate. Thus, some are sequestered in the extracellular matrix of tissues that contains heparan sulfate proteoglycans and are released locally upon injury or tissue remodeling. Families In humans, 23 members of the FGF family have been identified, all of which are ''structurally'' related signaling molecules: * Members FGF1 through FGF10 all bind fibroblast growth factor receptors (FGFRs). FGF1 is also known as ''acidic fibroblast growth factor'', and FGF2 is also kno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Calcitriol
Calcitriol is the active form of vitamin D, normally made in the kidney. It is also known as 1,25-dihydroxycholecalciferol. It is a hormone which binds to and activates the vitamin D receptor in the nucleus of the cell, which then increases the expression of many genes. Calcitriol increases blood calcium (Ca2+) mainly by increasing the uptake of calcium from the intestines. It can be given as a medication for the treatment of low blood calcium and hyperparathyroidism due to kidney disease, low blood calcium due to hypoparathyroidism, osteoporosis, osteomalacia, and familial hypophosphatemia, and can be taken by mouth or by injection into a vein. Excessive amounts or intake can result in weakness, headache, nausea, constipation, urinary tract infections, and abdominal pain. Serious side effects may include high blood calcium and anaphylaxis. Regular blood tests are recommended after the medication is started and when the dose is changed. Calcitriol was identified as the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Hypophosphatemic Rickets
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23 (FGF23). ADHR affects men and women equally; symptoms may become apparent at any point from childhood through early adulthood. Blood tests reveal low levels of phosphate (hypophosphatemia) and inappropriately normal levels of vitamin D. Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct. ADHR may be lumped in with X-linked hypophosphatemia X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short st ... under general terms such as ''hypophosphatemic rickets''. Hypophosphatemic rickets a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteocyte
An osteocyte, an oblate shaped type of bone cell with dendritic processes, is the most commonly found cell in mature bone. It can live as long as the organism itself. The adult human body has about 42 billion of them. Osteocytes do not divide and have an average half life of 25 years. They are derived from osteoprogenitor cells, some of which differentiate into active osteoblasts (which may further differentiate to osteocytes). Osteoblasts/osteocytes develop in mesenchyme. In mature bones, osteocytes and their processes reside inside spaces called lacunae (Latin for a ''pit'') and canaliculi, respectively. Osteocytes are simply osteoblasts trapped in the matrix that they secrete. They are networked to each other via long cytoplasmic extensions that occupy tiny canals called canaliculi, which are used for exchange of nutrients and waste through gap junctions. Although osteocytes have reduced synthetic activity and (like osteoblasts) are not capable of mitotic division, they are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mesenchymal
Mesenchyme () is a type of loosely organized animal embryonic connective tissue of undifferentiated cells that give rise to most tissues, such as skin, blood or bone. The interactions between mesenchyme and epithelium help to form nearly every organ in the developing embryo. Vertebrates Structure Mesenchyme is characterized morphologically by a prominent ground substance matrix containing a loose aggregate of reticular fibers and unspecialized mesenchymal stem cells. Mesenchymal cells can migrate easily (in contrast to epithelial cells, which lack mobility), are organized into closely adherent sheets, and are polarized in an apical-basal orientation. Development The mesenchyme originates from the mesoderm. From the mesoderm, the mesenchyme appears as an embryologically primitive "soup". This "soup" exists as a combination of the mesenchymal cells plus serous fluid plus the many different tissue proteins. Serous fluid is typically stocked with the many serous elements, such ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Iron Deficiency
Iron deficiency, or sideropenia, is the state in which a body lacks enough iron to supply its needs. Iron is present in all cells in the human body and has several vital functions, such as carrying oxygen to the tissues from the lungs as a key component of the hemoglobin protein, acting as a transport medium for electrons within the cells in the form of cytochromes, and facilitating oxygen enzyme reactions in various tissues. Too little iron can interfere with these vital functions and lead to morbidity and death. Total body iron averages approximately 3.8 g in men and 2.3 g in women. In blood plasma, iron is carried tightly bound to the protein transferrin. There are several mechanisms that control iron metabolism and safeguard against iron deficiency. The main regulatory mechanism is situated in the gastrointestinal tract. The majority of iron absorption occurs in the duodenum, the first section of the small intestine. A number of dietary factors may affect iron absorpt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperphosphatemia
Hyperphosphatemia is an electrolyte disorder in which there is an elevated level of phosphate in the blood. Most people have no symptoms while others develop calcium deposits in the soft tissue. Often there is also low calcium levels which can result in muscle spasms. Causes include kidney failure, pseudohypoparathyroidism, hypoparathyroidism, diabetic ketoacidosis, tumor lysis syndrome, and rhabdomyolysis. Diagnosis is generally based on a blood phosphate levels of greater than 1.46 mmol/L (4.5 mg/dL). Levels may appear falsely elevated with high blood lipid levels, high blood protein levels, or high blood bilirubin levels. Treatment may include eating a phosphate low diet and antacids, like calcium carbonate, that bind phosphate. Occasionally intravenous normal saline or dialysis may be used. How commonly it occurs is unclear. Signs and symptoms Signs and symptoms include ectopic calcification, secondary hyperparathyroidism, and renal osteodystrophy. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Calcinosis
Calcinosis is the formation of calcium deposits in any soft tissue. It is a rare condition that has many different causes. These range from infection and injury to systemic diseases like kidney failure. Types Dystrophic calcification The most common type of calcinosis is dystrophic calcification. This type of calcification can occur as a response to any soft tissue damage, including that involved in implantation of medical devices. Metastatic calcification Metastatic calcification involves a systemic calcium excess imbalance, which can be caused by hypercalcemia, kidney failure, milk-alkali syndrome, lack or excess of other minerals, or other causes. Tumoral calcinosis The cause of the rare condition of tumoral calcinosis is not entirely understood. It is generally characterized by large, globular calcifications near joints. See also * Calcification * Calcinosis cutis * Dermatomyositis * Fahr's syndrome * Hyperphosphatemia * Primrose syndrome * Scleroderma Scleroderma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
