refimprove date March 2008 Infobox disease Name Hypophosphatemia ICD10 ICD10 E 83 3 e 70 ICD9 ICD9 275.3 ICDO Image Phosphate Group.PNG Caption Phosphate group chemical structure OMIM OMIM mult MedlinePlus 000307 eMedicineSubj med eMedicineTopic 1135 DiseasesDB 6503 MeshID D017674 Hypophosphatemia is an electrolyte disturbance in which there is an abnormally low level of phosphate in the blood . The condition has many causes, but is most commonly seen when malnourished patients especially chronic alcoholics are given large amounts of carbohydrates, which creates a high phosphorus demand by cells, removing phosphate from the blood refeeding syndrome . Because a decrease in phosphate in the blood is sometimes associated with an increase in phosphate in the urine , the terms hypophosphatemia and phosphaturia are occasionally used interchangeably however, this is improper since there exist many causes of hypophosphatemia besides overexcretion and phosphaturia, and in fact the most common causes of hypophosphatemia are not associated with phosphaturia. Common causes of hypophosphatemia Refeeding syndrome This causes a demand for phosphate in cells due to the action of phosphofructokinase , an enzyme that attaches phosphate to glucose to begin metabolism of this. Also, production of Adenosine triphosphate ATP when cells are fed and recharge their energy supplies, requires phosphate. Respiratory alkalosis Any alkalemic condition moves phosphate out of the blood into cells. This includes most common respiratory alkalemia a higher than normal blood pH from low carbon dioxide levels in the blood ... first1 Thomas M last2 Coberly first2 LeAnn year 2003 title Severe Hypophosphatemia in Respiratory ... exacerbates hypophosphatemia see above . Malabsorption This includes GI damage, and also failure to absorb ... containing antacids, and more rarely calcium containing antacids. Primary hypophosphatemia ... causes Hepatic failure Tumor induced osteomalacia Pathophysiology Hypophosphatemia is caused by the following ... more details
Infobox disease Name X linked hypophosphatemia Image Caption DiseasesDB 6513 ICD10 ICD10 E 83 3 e 70 ICD9 ICD9 275.3 ICDO OMIM 307800 MedlinePlus eMedicineSubj ped eMedicineTopic 1128 MeshName MeshNumber MeshID D053098 X linked hypophosphatemia XLH , also called X linked dominant hypophosphatemic rickets , X linked vitamin d resistant rickets or hypophosphatemic vitamin d resistant rickets HPDR , ref name omim OMIM 307800 ref is an X linked dominant form of rickets or osteomalacia that differs from most cases of rickets in that ingestion of vitamin D is relatively ineffective. It can cause bone deformity including short stature and genu varum bow leggedness . It is associated with a mutation in the Phosphate regulating endopeptidase gene PHEX gene sequence Xp.22 and subsequent inactivity of the PHEX protein. ref name xlhxd The prevalence of the disease is 1 20000. ref cite journal author Carpenter TO title New perspectives on the biology and treatment of X linked hypophosphatemic rickets journal Pediatr. Clin. North Am. volume 44 issue 2 pages 443 466 year 1997 month Apr pmid 9130929 doi 10.1016 S0031 3955 05 70485 5 url ref The leg deformity can be treated with Ilizarov frame s and CHAOS surgery . Cause and Genetics Double image right Xlink dominant mother.jpg 185 X link dominant father.jpg 185 X linked dominant inheritance works differently depending upon whether the mother left image or father right image is the carrier of a gene that causes a disease or disorder XLH is associated with a mutation in the Phosphate regulating endopeptidase gene PHEX gene sequence, located on the human ... impairs bone mineralization. Biochemically, XLH is recognized by hypophosphatemia and inappropriately ... and Calcitriol also surgery if needed. See also hypophosphatemia References Reflist External links Chorus 00754 RareDiseases 6735 Hypophosphatemic rickets XLH Hypophosphatemia, vitamin D resistant rickets http www.ncbi.nlm.nih.gov entrez dispomim.cgi?id 307800 X linked hypophosphatemia the PHEX ... more details
refimprove date October 2010 Autosomal dominant hypophosphatemic rickets ADHR is a rare genetic disorder hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones rickets , bone pain , and tooth abscess es. 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 . Treatment consists of increasing phosphate intake and high doses of vitamin D. Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct. References OMIM 193100 Category Endocrine diseases Category Skeletal disorders Category Rare diseases ... more details
PBB geneid 5251 Phosphate regulating neutral endopeptidase also known as X linked hypophosphatemia protein HYP or metalloendopeptidase homolog PEX is an enzyme that in humans is encoded by the PHEX gene . ref name pmid7550339 cite journal author title A gene PEX with homologies to endopeptidases is mutated in patients with X linked hypophosphatemic rickets. The HYP Consortium journal Nat. Genet. volume 11 issue 2 pages 130 6 year 1995 month October pmid 7550339 doi 10.1038 ng1095 130 url issn ref ref name pmid9070861 cite journal author Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV, Schlessinger D title Expression and cloning of the human X linked hypophosphatemia gene cDNA journal Biochem. Biophys. Res. Commun. volume 231 issue 3 pages 635 9 year 1997 month February pmid 9070861 doi 10.1006 bbrc.1997.6153 url issn ref This gene contains 18 exon s and is located on the X chromosome . Function The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. ref name entrez cite web title Entrez Gene phosphate regulating endopeptidase homolog url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 5251 accessdate ref Clinical significance Mutation of PHEX leads to X linked hypophosphatemia . ref name pmid7550339 References Reflist gene X stub NLM content Category EC 3.4.24 ... more details
wiktionary The abbreviation HYP may stand for one of the following Big Three colleges HYP &mdash an initialism referring to the Big Three Northeastern U. S. colleges Harvard College, Yale College, and Princeton University Hydroxyproline , an amino acid Hypophosphatemia , an abnormally low level of phosphate in the blood The collection of sets in the Hyperarithmetical theory Hyperarithmetical sets and definability hyperarithmetic hierarchy . Hey You, Pikachu , a Pok mon character product. Hyp The Land Before Time , a character in The Land Before Time III The Time of the Great Giving . Hyp, shortcut for HypoVereinsbank , the second biggest German bank. Hyp, an abbreviation of Hypnosis Hyp nosis People s Ascent Party Turkish Halk n Y kseli i Partisi , a political party in Turkey disambig ja HYP ... more details
PMID 10945470 ref have all been identified as possible causative agents for the hypophosphatemia .... Treatment Resection of the tumor is the ideal treatment and results in correction of hypophosphatemia ... to treatment with octreotide. If hypophosphatemia persists despite calcitriol and phosphate supplementation ... more details
Refimprove date December 2008 Infobox disease Name Hyperphosphatemia Image Phosphate Group.PNG Caption Phosphate group chemical structure DiseasesDB 20722 ICD10 ICD9 ICD9 275.3 ICDO OMIM MedlinePlus eMedicineSubj med eMedicineTopic 1097 MeshID D054559 Hyperphosphatemia is an electrolyte disturbance in which there is an abnormally elevated level of phosphate in the blood . ref DorlandsDict four 000051179 hyperphosphatemia ref Often, calcium in biology calcium levels are lowered hypocalcemia due to precipitation of phosphate with the calcium in tissues. Signs and symptoms Signs and symptoms include ectopic calcification , secondary hyperparathyroidism , and renal osteodystrophy . Causes Hypoparathyroidism In this situation, there are low levels of Parathyroid hormone PTH . PTH normally inhibits renal reabsorption of phosphate, and so without enough PTH there is more reabsorption of the phosphate. Chronic renal failure When the kidneys aren t working well, there will be increased phosphate retention. Osteomalacia , which may be caused by the insufficient content of vitamin D in the diet, the lack of sunlight, malabsorption or renal disorders. Drugs hyperphosphatemia can also be caused by taking oral sodium phosphate solutions prescribed for bowel preparation for colonoscopy in children.It can also be cured by drinking a lot of water at regular intervals. Treatment High phosphate levels can be avoided with phosphate binders and dietary restriction of phosphate. See also Hypophosphatemia Hypophosphatasia References reflist Mineral metabolic pathology Category Electrolyte disturbances med stub es Hiperfosfatemia he pl Hiperfosfatemia pt Hiperfosfatemia sl Hiperfosfatemija ... more details
Vitamin D usually refers to Vitamin D , the group of fat soluble prohormones. It may also refer to Ergocalciferol , also known as vitamin D sub 2 sub Cholecalciferol , also known as vitamin D sub 3 sub 22 Dihydroergocalciferol , also known as vitamin D sub 4 sub Vitamin D5 Vitamin D sub 5 sub Calcifediol , also known as calcidiol 25 hydroxycholecalciferol, or 25 hydroxyvitamin D abbreviated 25 OH D . Blood concentration of calcifediol is considered the best indicator of vitamin D status. vitamin D related concepts, including Vitamin D and influenza Hypervitaminosis D , toxicity caused by the ingestion of large doses of vitamin D Hypovitaminosis D , a deficiency of vitamin D Vitamin D binding protein , encoded by the GC gene calcitriol receptor , also known as VDR, a receptor for vitamin D Vitamin D dependent calcium binding protein X linked hypophosphatemia , also known as vitamin D resistant rickets , a form of rickets for which ingestion of vitamin D is relatively ineffective Vitamin D Glee Vitamin D Glee , an episode of the American musical comedy drama television series Glee Dextromethorphan , or DXM, a street name for over the counter cough suppressants containing DXM. disambig ... more details
Expert subject Pathology date November 2008 Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D001851 Metabolic bone disease is an umbrella term referring to abnormalities of bones caused by a broad spectrum of disorders. Most commonly these disorders are caused by abnormalities of minerals such as calcium, phosphorus, magnesium or vitamin D leading to dramatic clinical disorders that are commonly reversible once the underlying defect has been treated. These disorders are to be differentiated from a larger group of genetic bone disorders where there is a defect in a specific signaling system or cell type that causes the bone disorder. There may be overlap. For example, Genetics genetic or hereditary hypophosphatemia may cause the metabolic bone disorder osteomalacia . Although there is currently no treatment for the genetic condition, replacement of phosphate often corrects or improves the metabolic bone disorder. Conditions considered to be metabolic bone disorders osteoporosis Paget s disease of bone osteomalacia adults & rickets children osteitis fibrosa cystica Osteoporosis is due to causal factors like atrophy of disuse and gonadal deficiency. Hence osteoporosis is common in post menopausal women and in men above 50 yrs. Hypercorticism may also be causal factor osteoporosis may be seen as a feature of Cushing s syndrome. External links http www.anapsid.org mbd.html Identification and treatment of metabolic bone disease http www.surgical tutor.org.uk default home.htm?system locomotor metabolic bone.htm right Metabolic Bone Disease http www.squirrel rehab.org rehabinfo mbd.html Squirrel Wildlife Rehabilitators Metabolic Bone Disease http www.reptileexpert.org metabolic bone disease Metabolic Bone Disease in reptiles An in depth review. Osteochondropathy Category Osteopathies ... more details
Infobox Disease Name Jansen& 39 s metaphyseal chondrodysplasia Image Caption DiseasesDB 31669 ICD10 ICD9 ICD9 756.9 ICDO OMIM 156400 MedlinePlus eMedicineSubj eMedicineTopic MeshID Jansen s metaphyseal chondrodysplasia or JMC is a disease that results from ligand independent activation of the type 1 of the parathyroid hormone receptor PTHR1 , due to one of three reported mutations activating mutation . JMC is extremely rare and as of 2007 there are less than 20 reported cases worldwide. Presentation Blood levels of parathryoid hormone PTH are undetectable, but the mutation in the PTHR1 leads to auto activation of the signaling as though the hormone PTH was present. Severe JMC produces a dwarfing phenotype , or short stature. Examination of the bone reveals normal epiphyseal plate s but disorganized metaphyseal regions. Hypercalcemia elevated levels of calcium in the blood and hypophosphatemia reduced blood levels of phosphorus , and elevated urinary calcium and phosphorus are generally found in JMC. The absence of hypercalcemia does not eliminate the disease from consideration. Physical irregularities often associated with Jansen s include prominent or protruding eyes, a high arched palate, micrognathia or abnormal smallness of the jaws particularly the lower mandible jaw, choana l stenosis , wide cranial sutures and irregular formation of the long bones which can resemble rickets . Nephrocalcinosis accumulation of calcium in the interstitum of the kidney is seen commonly as well. Treatment There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates . Note There is one known family in which the disease was transmitted mother to daughter. Synonyms Murk Jansen Type Metaphyseal Chondrodysplasia Jansen Metaphyseal Dysostosis Jansen Disease JMC Eponym It is named for Murk Jansen. ref Jansen, M. Ueber atypische Chondrodystrophie Achondroplasie und ueber eine noch nicht beschriebene angebo ... more details
Infobox Disease Name milk alkali syndrome Image Caption DiseasesDB 8215 ICD10 ICD9 ICD9 275.42 ICDO OMIM MedlinePlus 000332 eMedicineSubj med eMedicineTopic 1477 MeshID In medicine , milk alkali syndrome , also called Burnett s syndrome in honor of Charles Hoyt Burnett , the American physician who first described it, ref WhoNamedIt synd 4029 ref ref cite journal author Burnett CH, Commons RR, Albright F, Howard JE title Hypercalcemia without hypercalcuria or hypophosphatemia, calcinosis and renal insufficiency a syndrome following prolonged intake of milk and alkali journal N. Engl. J. Med. volume 240 issue 20 pages 787 94 year 1949 pmid 18126919 doi 10.1056 NEJM194905192402001 url ref is characterized by hypercalcemia caused by repeated ingestion of calcium and absorbable alkali such as calcium carbonate , or milk and sodium bicarbonate . If untreated, milk alkali syndrome may lead to metastatic calcification and renal failure . It was most common in the early 20th century, but there has been a recent increase in the number of cases reported. ref name pmid17483976 cite journal author Caruso JB, Patel RM, Julka K, Parish DC title Health behavior induced disease return of the milk alkali syndrome journal J Gen Intern Med volume 22 issue 7 pages 1053 5 year 2007 month July pmid 17483976 doi 10.1007 s11606 007 0226 0 pmc 2219730 ref ref name pmid16702792 cite journal author Beall DP, Henslee HB, Webb HR, Scofield RH title Milk alkali syndrome a historical review and description of the modern version of the syndrome journal Am. J. Med. Sci. volume 331 issue 5 pages 233 42 year 2006 month May pmid 16702792 doi 10.1097 00000441 200605000 00001 url http meta.wkhealth.com pt pt core template journal lwwgateway media landingpage.htm?an 00000441 200605000 00001 ref Pathophysiology The name milk alkali syndrome derives from when patients would take in excessive amounts of milk and antacids to control their dyspepsia , as prescribed by the Antacid Side effects Sippy regimen , l ... more details
Infobox Disease Name Refeeding syndrome Image Caption DiseasesDB 11205 ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Refeeding syndrome is a syndrome consisting of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starvation starved or severely malnourishment malnourished . ref name pmid18583681 cite journal author Mehanna HM, Moledina J, Travis J title Refeeding syndrome what it is, and how to prevent and treat it journal BMJ volume 336 issue 7659 pages 1495 8 year 2008 month June pmid 18583681 pmc 2440847 doi 10.1136 bmj.a301 url http bmj.com cgi pmidlookup?view long&pmid 18583681 ref Renourishment is the process of avoiding refeeding syndrome. The syndrome was first described after World War II in United States of America Americans who, held by the Empire of Japan Japanese as prisoners of war World War II prisoners of war , had become malnourished during captivity and who were then released to the care of United States personnel in the Philippines . ref name pmid14847450 cite journal author SCHNITKER MA, MATTMAN PE, BLISS TL title A clinical study of malnutrition in Japanese prisoners of war journal Ann. Intern. Med. volume 35 issue 1 pages 69 96 year 1951 month July pmid 14847450 doi url ref Syndrome Any individual who has had negligible nutrient intake for 5 consecutive days is at risk of refeeding syndrome. Refeeding syndrome usually occurs within four days of starting to feed. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia , along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. During prolonged fasting the body aims to conserve muscle and protein breakdown by switching to ketone bodies derived from fatty acids as the main energy source. The liver decreases its rate of gluconeogenesis thus conserving muscle and protein. Many intracellular minerals become severely depleted during this period, although serum levels remain nor ... more details
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