Title FIZIOTERAPIJA OSOBA OBOLJELIH OD TURNER SINDROMA
Title (english) PHYSIOTHERAPY IN PATIENTS WITH TURNER SYNDROME
Author Ivana Trupeljak
Mentor Kristijan Zulle (mentor)
Committee member Verner Marijančić (predsjednik povjerenstva)
Committee member Hrvoje Vlahović (član povjerenstva)
Committee member Kristijan Zulle (član povjerenstva)
Granter University of Rijeka Faculty of Health Studies (Department of Physiotherapy) Rijeka
Defense date and country 2020-09-21, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Basic Medical Sciences Anatomy
Abstract Turnerov sindrom ili sindrom urođene hipoplazije jajnika prvi put je opisao liječnik Henry Turner 1938. god. u Oklahomi. Radi se o kromosomopatiji s potpunom ili djelomičnom monosomijom kromosoma X, u fenotipski ženske osobe, a povezan je s jednom ili više kliničkih manifestacija. Turnerov sindrom zabilježen je u otprilike 1 na 2000 do 1 na 2500 živorođenih. Prenatalno se dijagnosticira amniocentezom ili uzorkovanjem korionskih resica, a postnatalno genskim testom kariotipizacije. Najkarakterističniji klinički znakovi su nizak rast i izostanak sekundarnih spolnih karakteristika, uz brojne druge simptome od kojih su najčešće mišićno-koštane i kardiovaskularne malformacije te umanjena sposobnost kognitivnog funkcioniranja, složenih psihomotornih vještina i socijalnih vještina. Liječenje ovisi o simptomima i može uključivati operativne tehnike zbog srčanih malformacija, uz obveznu hormonsku nadomjesnu terapiju hormonom rasta zbog niskog rasta i egzogenu nadoknadu estrogena zbog izostajanja sekundarnih spolnih karakteristika. Nadomjesna hormonska terapija omogućava jednaku dužinu života kao u zdrave populacije, međutim, povećan je rizik za nastanak osteopenije i osteoporoze, pretilosti, povišenja krvnog tlaka, pojavu dijabetesa i drugih bolesti i simptoma koji značajno utječu na kvalitetu života. Pet je područja prema kojima su napravljene glavne smjernice medicinskog tretmana oboljelih od Turnerovog sindroma : dijagnostička i genetska pitanja, rast i razvoj tijekom djetinjstva i adolescencije, prirođene i stečene kardiovaskularne bolesti, njega odraslih i druge popratne bolesti te neurokognitivna pitanja. Oboljelima je potreban individualan pristup multidisciplinarnog tima, u kojem fizioterapeut, slijedeći cjelovit, sveobuhvatan pristup, cilj provedbe fizioterapijskog postupka bazira na osnovi komplikacija medikamentno induciranog rasta i razvoja, osteopenije i osteoporoze te kongenitalnih mišićno-koštanih i kardiovaskularnih malformacija, osiguravajući pritom kvalitetnu i povjerljivu suradnju s pacijentom i timom. Interprofesionalni pristup multidisciplinarnog tima i adekvatna suradnja s pacijentom najefikasnije će dovesti do optimalnih ishoda u liječenju i rehabilitaciji oboljelih od Turner sindroma.
Abstract (english) Turner’s syndrome, also known as congenital ovarian hypoplasia was first described in 1938 by doctor Henry Turner, in Oklahoma, Texas. The syndrome is defined as a chromosomopathy with complete or partial monosomy of chromosome X which occurs in a female and it is related to one or more clinical manifestations. In average, Turner’s syndrome appears to occur in approximately 1 in 2000 to 1 in 2500 newborns, which is around 0.04 – 0.05 %. Prenatally, it is diagnosed by amniocentesis or by sampling chorionic villi, and postnatally by a genetic karyotyping test. The most common clinical signs are significant growth deficit, the absence of secondary sexual characteristics, among many other symptoms, including musculoskeletal and cardiovascular malformations and the lack of cognitive functionality in the area of social and psychomotor skills as the most often cases. The treatment depends on the symptoms and can include operational techniques due to heart malformations, along with mandatory hormone replacement therapy by growth hormone to stimulate growth and exogenous estrogen replacement due to lack of secondary sexual characteristics. Hormone replacement therapy extends the lifetime expectancy to the one of an average healthy person, but comes with increased risk of osteporosis and osteopenia, higher blood pressure, obesity, diabetes and other diseases and symptoms that significantly affect the quality of life. There are five categories upon which main guidelines were created for medical treatment of a patient with Turner’s syndrome : diagnostic and genetic issues, growth and development during childhood and adolescence, congenital and acquired cardiovascular diseases, adult care and neurocognitive issues. Every patient requires an individual approach provided by a multidisciplinary team in which the physiotherapist, following the comprehensive plan, bases the goal of implementing the physiotherapeutic procedure on the basis of complications of drug-induced growth and development, osteporosis and osteopenia as well as congenital musculoskeletal and cardiovascular malformations, assuring the quality and confidential collaboration with the patient and the team. Interprofessional approach of a multidisciplinary team and the adequate collaboration with a patient will lead to desired and optimal outcomes in the treatment and rehabilitation of a patient with Turner’s syndrome.
Keywords
Turnerov sindrom
spolni kromosom
liječenje
fizioterapija
Keywords (english)
Turner's syndrome
sex chromosome
treatmant
physiotherapy
Language croatian
URN:NBN urn:nbn:hr:184:872346
Study programme Title: Physiotherapy Study programme type: professional Study level: undergraduate Academic / professional title: stručni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) fizioterapije (stručni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) fizioterapije)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Created on 2020-12-03 12:36:52