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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 under general terms such as ''hypophosphatemic rickets''. Hypophosphatemic rickets are associated with at least nine other genetic mutations. Clinical management of hypophosphatemic rickets may differ depending on the specific mutations associated with an individual case, but treatments are aimed at raising phosphate levels to promote no ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phosphate
Phosphates are the naturally occurring form of the element phosphorus. In chemistry, a phosphate is an anion, salt, functional group or ester derived from a phosphoric acid. It most commonly means orthophosphate, a derivative of orthophosphoric acid, phosphoric acid . The phosphate or orthophosphate ion is derived from phosphoric acid by the removal of three protons . Removal of one proton gives the dihydrogen phosphate ion while removal of two protons gives the hydrogen phosphate ion . These names are also used for salts of those anions, such as ammonium dihydrogen phosphate and trisodium phosphate. File:3-phosphoric-acid-3D-balls.png, Phosphoricacid File:2-dihydrogenphosphate-3D-balls.png, Dihydrogenphosphate File:1-hydrogenphosphate-3D-balls.png, Hydrogenphosphate File:0-phosphate-3D-balls.png, Phosphate or orthophosphate In organic chemistry, phosphate or orthophosphate is an organophosphate, an ester of orthophosphoric acid of the form where one ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rickets
Rickets, scientific nomenclature: rachitis (from Greek , meaning 'in or of the spine'), is a condition that results in weak or soft bones in children and may have either dietary deficiency or genetic causes. Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. Complications may include bone Deformity, deformities, bone pseudofractures and Bone fracture, fractures, muscle spasms, or an scoliosis, abnormally curved spine. The analogous condition in adults is osteomalacia. The most common cause of rickets is a hypovitaminosis D, vitamin D deficiency, although hereditary genetic forms also exist. This can result from eating a diet without enough vitamin D, dark skin, too little sun exposure, exclusive breastfeeding without vitamin D supplementation, celiac disease, and certain genetic conditions. Other factors may include not enough calcium or phosphorus. The underlying mechanism involves insufficient calcification of the growth plate. Di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone Pain
Bone pain (also known medically by several other names) is pain coming from a bone, and is caused by damaging stimuli. It occurs as a result of a wide range of diseases or physical conditions or both, and may severely impair the quality of life.Luger, N. Mach, D. Sevcik, M. Mantyh, P. (2005). Bone cancer pain: From mechanism to model to therapy. ''Journal of Pain and Symptom Management''. 29(5): 32-46. Bone pain belongs to the class of deep somatic pain, often experienced as a dull pain that cannot be localized accurately by the patient. This is in contrast with the pain which is mediated by superficial receptors in, e.g., the skin. Bone pain can have several possible causes ranging from extensive physical stress to serious diseases such as cancer.Zwas, T. Elkanovitch, R. George, F. (1987). Interpretation and Classification of Bone Scintigraphic Findings in Stress Fractures. ''Journal of Nuclear Medicine''. 28: 452-457.Mantyh, P. Clohisy, D. Koltzenburg, M. Hunt, S. (2002). Mole ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abscess
An abscess is a collection of pus that has built up within the tissue of the body, usually caused by bacterial infection. Signs and symptoms of abscesses include redness, pain, warmth, and swelling. The swelling may feel fluid-filled when pressed. The area of redness often extends beyond the swelling. Carbuncles and boils are types of abscess that often involve hair follicles, with carbuncles being larger. A cyst is related to an abscess, but it contains a material other than pus, and a cyst has a clearly defined wall. Abscesses can also form internally on internal organs and after surgery. They are usually caused by a bacterial infection. Often many different types of bacteria are involved in a single infection. In many areas of the world, the most common bacteria present is ''methicillin-resistant Staphylococcus aureus''. Rarely, parasites can cause abscesses; this is more common in the developing world. Diagnosis of a skin abscess is usually made based on what it looks ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibroblast Growth Factor 23
Fibroblast growth factor 23 (FGF-23) 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. FGF-23 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 and phosphate. FGF23 acts on the kidneys by decreasing the expression of NPT2, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypophosphatemia
Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood. Symptoms may include weakness, trouble breathing, and loss of appetite. Complications may include seizures, coma, rhabdomyolysis, or softening of the bones. Nutritional phosphate deficiency is exceedingly rare as phosphate is abundant in most types of foods and is readily passively absorbed from the gastrointestinal tract; hypophosphatemia is thus typically a result of diseases or an adverse effect of medical treatments. Causes include alcohol use disorder, refeeding in those with malnutrition, recovery from diabetic ketoacidosis, burns, hyperventilation, and certain medications. It may also occur in the setting of hyperparathyroidism, hypothyroidism, and Cushing syndrome. It is diagnosed based on a blood phosphate concentration of less than 0.81 mmol/L (2.5 mg/dL). When levels are below 0.32 mmol/L (1.0 mg/dL) it is deemed to be severe. Treatment depends on th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vitamin D
Vitamin D is a group of structurally related, fat-soluble compounds responsible for increasing intestinal absorption of calcium, magnesium, and phosphate, along with numerous other biological functions. In humans, the most important compounds within this group are vitamin D3 ( cholecalciferol) and vitamin D2 ( ergocalciferol). Unlike the other twelve vitamins, vitamin D is only conditionally essential, as with adequate skin exposure to the ultraviolet B (UVB) radiation component of sunlight there is synthesis of cholecalciferol in the lower layers of the skin's epidermis. For most people, skin synthesis contributes more than diet sources. Vitamin D can also be obtained through diet, food fortification and dietary supplements. In the U.S., cow's milk and plant-based milk substitutes are fortified with vitamin D3, as are many breakfast cereals. Government dietary recommendations typically assume that all of a person's vitamin D is taken by mouth, given the potential for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Hypophosphatemia
Sex linkage describes the sex-specific patterns of inheritance and expression when a gene is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). Genes situated on the X-chromosome are thus termed X-linked, and are transmitted by both males and females, while genes situated on the Y-chromosome are termed Y-linked, and are transmitted by males only. As human females possess two X-chromosomes and human males possess one X-chromosome and one Y-chromosome, the phenotype of a sex-linked trait can differ between males and females due to the differential number of alleles (polymorphisms) possessed for a given gene. In humans, sex-linked patterns of inheritance are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes sex-linked patterns of inheritance characteristically different from autosomal dominance and recessiveness. Thi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Burosumab
Burosumab, sold under the brand name Crysvita, is a human monoclonal antibody medication approved 2018 for the treatment of X-linked hypophosphatemia and tumor-induced osteomalacia. Medical uses In the European Union and the United States, burosumab is indicated for the treatment of adults and children ages one year and older with X-linked hypophosphatemia (XLH), a rare, inherited form of rickets. caused by overproduction of a hormone called FGF23 (fibroblast growth factor 23) in bone cells. FGF23 is responsible for blocking phosphate re-absorption in the kidney and the suppression of the vitamin D dependent phosphate absorption in the intestine. Due to the excess activity of FGF23, phosphate levels in the blood are abnormally low (hypophosphatemia), which affects the constitution of bone. In the United States, burosumab is also approved to treat people age two and older with tumor-induced osteomalacia (TIO), a rare disease which is characterized by the development of tumors c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endocrine Diseases
Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology. Types of disease Broadly speaking, endocrine disorders may be subdivided into three groups: # Endocrine gland hypofunction/hyposecretion (leading to hormone deficiency) # Endocrine gland hyperfunction/hypersecretion (leading to hormone excess) # Tumours (benign or malignant) of endocrine glands Endocrine disorders are often quite complex, involving a mixed picture of hyposecretion and hypersecretion because of the feedback mechanisms involved in the endocrine system. For example, most forms of hyperthyroidism are associated with an excess of thyroid hormone and a low level of thyroid stimulating hormone. List of diseases Glucose homeostasis disorders * Diabetes ** Type 1 Diabetes ** Type 2 Diabetes ** Gestational Diabetes ** Mature Onset Diabetes of the Young ** Diabetic myopathy * Hypoglycemia ** Idiopathic hypoglycemia ** In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skeletal Disorders
Bone disease refers to the medical conditions which affect the bone. Terminology A bone disease is also called an "osteopathy", but because the term osteopathy is often used to refer to an alternative health-care philosophy, use of the term can cause some confusion. Bone and cartilage disorders Osteochondrodysplasia is a general term for a disorder of the development of bone and cartilage. List A * Ambe * Avascular necrosis or Osteonecrosis * Arthritis B * Bone spur (Osteophytes) C * Craniosynostosis * Coffin–Lowry syndrome * Copenhagen disease F * Fibrodysplasia ossificans progressiva * Fibrous dysplasia * Fong disease (or Nail–patella syndrome) * Fracture G * Giant cell tumor of bone * Greenstick fracture * Gout H * Hypophosphatasia * Hereditary multiple exostoses K * Klippel–Feil syndrome M * Metabolic bone disease * Multiple myeloma N * Nail–patella syndrome O * Osteitis * Osteitis deformans (or Paget's disease of bone) * Ost ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
