master's thesis
DUCHENNEOVA DISTROFIJA

Eduard Keretić (2015)
Sveučilište u Rijeci
Medicinski fakultet
Katedra za neurologiju
Metadata
TitleDUCHENNEOVA DISTROFIJA
AuthorEduard Keretić
Mentor(s)Igor Antončić (thesis advisor)
Abstract
Duchenneova distrofija genetska je i progresiva bolest mišića koja rezultira mišićnom slabošću i gubitkom funkcije samih mišića. Nastaje mutacijom gena za protein distrofin na X kromosomu. Žene su u pravilu samo nositelji mutacije, a muškarci obolijevaju. U ranom stadiju bolesti zahvaćeni su donji udovi i zdjelica, a kako bolest napreduje bolest zahvaća i gornje ekstremitete i rameni obruč. Propadanjem mišića dolazi do zamjene mišićnog tkiva vezivnim tkivom, nakupljanja masnog tkiva i odlaganja kalcija. Postavljanje dijagnoze Duchenneove distrofije veoma je kompleksno i sastoji se od iscrpne anamneze, detaljne neurološke obrade, laboratorijskih testova, slikovnih metoda, specifičnih funkcionalnih testova, metoda molekularne genetike i biopsije mišića. Terapija Duchenneove distrofije zahtjeva multidisciplinarni pristup, a obuhvaća medikamentoznu terapiju, kiruršku terapiju i fizioterapiju. Specifičnog lijeka nema, no od medikamenata koristi se kortikostroid prednizon i mnogi drugi dodaci prehrani oboljelih. Kirurški zahvati izvode se kod pojave kontraktura zglobova i skolioze kralježnice. Najbitnija je fizikalna terapija s ciljem usporavanja propadanja mišićne snage i funkcije. U prosjeku oko 12. godine starosti oboljeli od Duchenneove distrofije postaju nepokretni i postaju vezani za invalidska kolica do kraja života. Kako bolest napreduje javljaju se brojne komplikacije, a najbitnije su kardiopulmonalne u smislu pneumonija i akutne srčane insuficijencije. Životni vijek osoba oboljelih od Duchenneove distrofije je 30-35 godina. Kao i za mnoge druge genetske bolesti, tako i za Duchenneovu bolest preporučeno je genetičko testiranje i genetsko savjetovanje. Brojna istraživanja s ciljem otkrivanja lijeka za ovaj poremećaj danas su u tijeku, a uspjeh je zabilježen otkrićem lijeka kodnog imena PCT124 koji se danas nalazi u upotrebi pod nazivom ataluren.
KeywordsDuchenne dystrophy
GranterSveučilište u Rijeci
Medicinski fakultet
Lower level organizational unitsKatedra za neurologiju
PlaceRijeka
StateCroatia
Scientific field, discipline, subdisciplineBIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Study programme typeuniversity
Study levelintegrated undergraduate and graduate
Study programmeMedicine
Academic title abbreviationdr. med.
Genremaster's thesis
Language Croatian
Defense date2015
Parallel abstract (English)
Duchenne dystrophy is a genetic and progressive muscle disease resulting in muscle weakness and loss of function of the muscle itself. Occurs by mutation of a gene for the protein dystrophin on the X chromosome. Women are usually only carriers of the mutation, and men suffer. In the early stages of the disease affected the lower limbs and pelvis, and as the disease progresses the disease affects the upper extremity and shoulder rim. Muscle wasting the replacement of muscle tissue by connective tissue, body fat and calcium deposition. The diagnosis of Duchenne muscular dystrophy is very complex and consists of a detailed medical history, detailed neurological treatment, laboratory tests, imaging studies, specific functional tests, methods of molecular genetics and muscle biopsy. Treatment of Duchenne muscular dystrophy requires a multidisciplinary approach, and includes drug therapy, surgical therapy and physiotherapy. No specific drug, but from medications used corticosteroid prednisone and many other supplements patients. Surgical procedures are performed with the onset of joint contractures and scoliosis of the spine. The most important physical therapy to slow the deterioration of muscle strength and function. On average about 12 years of age suffering from Duchenne muscular dystrophy become immobile and become bound to a wheelchair for life. As the disease progresses there are many complications, and are the most important in terms of cardiopulmonary pneumonia and acute heart failure. The lifespan of a person suffering from Duchenne muscular dystrophy is 30-35 years. As with many other genetic diseases, and for the Duchenne disease is recommended that genetic testing and genetic counseling. Numerous studies with the aim of discovering a cure for this disorder are now in progress, and the success recorded the discovery of drug codenamed PCT124 which is now in use under the name ataluren.
Parallel keywords (Croatian)Duchenneova distrofija
Resource typetext
Access conditionOpen access
Terms of usehttp://rightsstatements.org/vocab/InC/1.0/
URN:NBNhttps://urn.nsk.hr/urn:nbn:hr:184:462981
CommitterBosa Licul