Uporabnik:Melaleuca alternifolia/peskovnik1: razlika med redakcijama

brez povzetka urejanja
Za dokazovanje hipersekrecije rastnega hormona je dober pokazatelj tudi inzulinu podobni rastni faktor 1 (IGF-1), ki se izloča enakomerno in bo njegova raven pri bolnikih z gigantizmov vselej zvišana. Normalna vrednost IGF-1 kaže, da ni hipersekrecije rastnega hormona.<ref name=":6" />
 
== GeneticGenetika ==
SomeIskanje commonspecifičnega genetskega vzroka za pojav gigantizma je težavno. Gigantizem je tipični primer motenj [[mutation]]s havehipersekrecijo beenrastnega associatedhormona, ki še niso withdovolj gigantismrazumljene.<ref Pediatricname=":0" gigantism/> patientsZ havegigantizmom shownje topovezanih havenekaj duplicationspogostih of[[Mutacija|mutacij]]. genesPediatrični onbolniki az specificgigantizmom chromosome,imajo pogosto duplikacije (podvojitve) [[Gen|genov]] na kromosomu Xq26. Typically,Običajno thesese patientspri alsotovrstnih experiencedbolnikih antipični onsetsimptomi ofgigantizma typicalpojavijo gigantismše symptomspred beforedoseženimi reachingpetimi theleti agestarosti. ofTo 5.kaže Thisna indicatesmožnost, ada possiblenaj linkagebi betweenbile [[geneduplikacije duplication]]sgenov andpovezane thez gigantismgigantizmom.<ref>{{Cite journal|last1=Trivellin|first1=Giampaolo|last2=Daly|first2=Adrian F.|last3=Faucz|first3=Fabio R.|last4=Yuan|first4=Bo|last5=Rostomyan|first5=Liliya|last6=Larco|first6=Darwin O.|last7=Schernthaner-Reiter|first7=Marie Helene|last8=Szarek|first8=Eva|last9=Leal|first9=Letícia F.|title=Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation|journal=New England Journal of Medicine|volume=371|issue=25|pages=2363–2374|doi=10.1056/nejmoa1408028|pmid=25470569|pmc=4291174|year=2014}}</ref>
 
Četudi naj bi bile z gigantizmom povezane raznolike mutacije genov, več kot polovici primerov ni mogoče pripisati genetskih vzrokov.<ref name=":0" />
Finding a specific [[Genetics|genetic]] cause for gigantism has proven to be difficult. Gigantism is the primary example of growth hormone hyper-secretion disorders, a group of illnesses that are not yet deeply understood.<ref name=":0" />
 
== Zdravljenje ==
Some common [[mutation]]s have been associated with gigantism. Pediatric gigantism patients have shown to have duplications of genes on a specific chromosome, Xq26. Typically, these patients also experienced an onset of typical gigantism symptoms before reaching the age of 5. This indicates a possible linkage between [[gene duplication]]s and the gigantism.<ref>{{Cite journal|last1=Trivellin|first1=Giampaolo|last2=Daly|first2=Adrian F.|last3=Faucz|first3=Fabio R.|last4=Yuan|first4=Bo|last5=Rostomyan|first5=Liliya|last6=Larco|first6=Darwin O.|last7=Schernthaner-Reiter|first7=Marie Helene|last8=Szarek|first8=Eva|last9=Leal|first9=Letícia F.|title=Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation|journal=New England Journal of Medicine|volume=371|issue=25|pages=2363–2374|doi=10.1056/nejmoa1408028|pmid=25470569|pmc=4291174|year=2014}}</ref>
ManyŠtevilni treatmentsnačina forzdravljenja gigantismgigantizma receiveso criticismbili anddeležni arekritik notin acceptedniso aspopolnoma idealsprejeti. VariousZa treatmentszdravljenje involvinggigantizma surgeryse anduporabljajo drugspostopki, haveki beenvključujejo usedkirurške toposege treatin gigantismrazna zdravila.<ref name=":2">{{Cite journal|last1=Goldenberg|first1=Naila|last2=Racine|first2=Michael S.|last3=Thomas|first3=Pamela|last4=Degnan|first4=Bernard|last5=Chandler|first5=William|last6=Barkan|first6=Ariel|date=2008-08-01|title=Treatment of Pituitary Gigantism with the Growth Hormone Receptor Antagonist Pegvisomant|journal=The Journal of Clinical Endocrinology & Metabolism|volume=93|issue=8|pages=2953–2956|doi=10.1210/jc.2007-2283|pmid=18492755|issn=0021-972X|pmc=2515082}}</ref>
 
=== Farmacevtiki ===
Additionally, DNA mutations in the aryl hydrocarbon receptor interacting protein ([[AIP (gene)|AIP]]) gene are common in gigantism patients. They have been found to be present in about 29 percent of patients with gigantism.<ref name=":1" /> AIP is labeled as a [[tumor suppressor gene]] and a [[pituitary adenoma]] disposition gene.<ref name=":1" /><ref name=":7">{{Cite journal|last1=Beckers|first1=Albert|last2=Aaltonen|first2=Lauri A.|last3=Daly|first3=Adrian F.|last4=Karhu|first4=Auli|date=2013-04-01|title=Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene|journal=Endocrine Reviews|volume=34|issue=2|pages=239–277|doi=10.1210/er.2012-1013|pmid=23371967|issn=0163-769X|pmc=3610678}}</ref>
After[[Pegvisomant]] treatmentje witheno pegvisomantod zdravil, highki growthse rates,uporablja aza featurezdravljenje characteristicgigantizma. ofAplikacija gigantismpegvisomanta vodi v zmanjševanje ravni IGF-1, canpo uporabi se pogosto nekoliko beumiri significantlytudi decreasedrast.<ref name=":2" /> Pegvisomant hasnaj beenbi seenbil toodlična bealternativa anekaterim powerfuldrugim alternativenačinom tozdravljenja, otherki treatmentsvključujejo such asanaloge [[somatostatinSomatostatin|somatostatina]] analogues, aše commonposebej treatmentznačilne methodza forzdravljenje acromegalyakromegalije, ifče drugse treatmentob istem paireduporablja withtudi [[Radiation therapy|radiationradioterapija]].<ref>{{Cite journal|last1=Rix|first1=M.|last2=Laurberg|first2=P.|last3=Hoejberg|first3=A. S.|last4=Brock-Jacobsen|first4=B.|date=2005-08-01|title=Pegvisomant therapy in pituitary gigantism: successful treatment in a 12-year-old girl|journal=European Journal of Endocrinology|language=en|volume=153|issue=2|pages=195–201|doi=10.1530/eje.1.01956|issn=0804-4643|pmid=16061823|doi-access=free}}</ref> Pri aplikaciji pegvisomanta je nujno, da so vnesene primerne količine, ki ne škodijo procesu rasti. V ta namen se pogosto poslužujejo [[Titracija|titracije]] zdravila.<ref name=":2" />
 
Mutations in AIP [[DNA sequencing|sequencing]] can have deleterious effects by inducing the development of pituitary adenomas which in turn can cause gigantism.<ref name=":1" /><ref name=":7" />
 
Two specific mutations in the AIP gene have been identified as possible causes of pituitary adenomas. These mutations also have the ability to cause adenoma growth to occur early in life.<ref>{{Cite journal|last1=Vierimaa|first1=Outi|last2=Georgitsi|first2=Marianthi|last3=Lehtonen|first3=Rainer|last4=Vahteristo|first4=Pia|last5=Kokko|first5=Antti|last6=Raitila|first6=Anniina|last7=Tuppurainen|first7=Karoliina|last8=Ebeling|first8=Tapani M. L.|last9=Salmela|first9=Pasi I.|date=2006-05-26|title=Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene|journal=Science|language=en|volume=312|issue=5777|pages=1228–1230|doi=10.1126/science.1126100|issn=0036-8075|pmid=16728643|bibcode=2006Sci...312.1228V|s2cid=37013760}}</ref> This is typical in gigantism.
 
Additionally, a large variety of other known genetic disorders have been found to influence the development of gigantism such as [[Multiple endocrine neoplasia type 1|multiple endocrine neoplasia type 1 and 4]], [[McCune–Albright syndrome|McCune-Albright syndrome]], [[Carney complex]], familial isolated pituitary adenoma, X-linked acrogigantism (X-LAG).<ref name=":1" /><ref>{{Cite journal|last1=Rostomyan|first1=Liliya|last2=Daly|first2=Adrian F.|last3=Beckers|first3=Albert|title=Pituitary gigantism: Causes and clinical characteristics|journal=Annales d'Endocrinologie|volume=76|issue=6|pages=643–649|doi=10.1016/j.ando.2015.10.002|pmid=26585365|year=2015}}</ref>
 
Although various gene mutations have been associated with gigantism, over 50 percent of cases cannot be linked to genetic causes, showing the complex nature of the disorder.<ref name=":0" />
 
== Treatment ==
Many treatments for gigantism receive criticism and are not accepted as ideal. Various treatments involving surgery and drugs have been used to treat gigantism.<ref name=":2">{{Cite journal|last1=Goldenberg|first1=Naila|last2=Racine|first2=Michael S.|last3=Thomas|first3=Pamela|last4=Degnan|first4=Bernard|last5=Chandler|first5=William|last6=Barkan|first6=Ariel|date=2008-08-01|title=Treatment of Pituitary Gigantism with the Growth Hormone Receptor Antagonist Pegvisomant|journal=The Journal of Clinical Endocrinology & Metabolism|volume=93|issue=8|pages=2953–2956|doi=10.1210/jc.2007-2283|pmid=18492755|issn=0021-972X|pmc=2515082}}</ref>
 
=== Pharmaceuticals ===
[[Pegvisomant]] is one [[pharmaceutical drug]] which has received attention for being a possible treatment route for gigantism. Reduction of the levels of [[Insulin-like growth factor 1|IGF-I]] as a result of pegvisomant administration can be incredibly beneficial for the pediatric gigantism patients.<ref name=":2"/>
 
After treatment with pegvisomant, high growth rates, a feature characteristic of gigantism, can be significantly decreased.<ref name=":2" /> Pegvisomant has been seen to be a powerful alternative to other treatments such as [[somatostatin]] analogues, a common treatment method for acromegaly, if drug treatment is paired with [[Radiation therapy|radiation]].<ref>{{Cite journal|last1=Rix|first1=M.|last2=Laurberg|first2=P.|last3=Hoejberg|first3=A. S.|last4=Brock-Jacobsen|first4=B.|date=2005-08-01|title=Pegvisomant therapy in pituitary gigantism: successful treatment in a 12-year-old girl|journal=European Journal of Endocrinology|language=en|volume=153|issue=2|pages=195–201|doi=10.1530/eje.1.01956|issn=0804-4643|pmid=16061823|doi-access=free}}</ref>
 
Finding the optimal level of pegvisomant is important so normal body growth is not negatively affected. In order to do this, [[titration]] of the medication can be used as a way to find the proper administration level.<ref name=":2"/>
 
See [[acromegaly]] for additional treatment possibilities.
 
==Terminology==