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master's thesis
Kraniometafizealna displazija
Zagreb: University of Zagreb, School of Medicine, 2019. urn:nbn:hr:105:545570
Antunović, Marko
University of Zagreb
School of Medicine
Department of Pediatrics

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

Cite this document

Antunović, M. (2019). Kraniometafizealna displazija (Master's thesis). Zagreb: University of Zagreb, School of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:545570

Antunović, Marko. "Kraniometafizealna displazija." Master's thesis, University of Zagreb, School of Medicine, 2019. https://urn.nsk.hr/urn:nbn:hr:105:545570

Antunović, Marko. "Kraniometafizealna displazija." Master's thesis, University of Zagreb, School of Medicine, 2019. https://urn.nsk.hr/urn:nbn:hr:105:545570

Antunović, M. (2019). 'Kraniometafizealna displazija', Master's thesis, University of Zagreb, School of Medicine, accessed 23 November 2024, https://urn.nsk.hr/urn:nbn:hr:105:545570

Antunović M. Kraniometafizealna displazija [Master's thesis]. Zagreb: University of Zagreb, School of Medicine; 2019 [cited 2024 November 23] Available at: https://urn.nsk.hr/urn:nbn:hr:105:545570

M. Antunović, "Kraniometafizealna displazija", Master's thesis, University of Zagreb, School of Medicine, Zagreb, 2019. Available at: https://urn.nsk.hr/urn:nbn:hr:105:545570

Metadata
TitleKraniometafizealna displazija
Title (english)Craniometaphyseal dysplasia
AuthorMarko Antunović
MentorMario Ćuk (mentor)
Committee memberDanko Milošević (predsjednik povjerenstva)
Committee memberMarija Jelušić (član povjerenstva)
Committee memberMario Ćuk (član povjerenstva)
GranterUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Zagreb
Defense date and country2019-07-12, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract
Kraniometafizealna displazija (CMD) bolest je iz grupe kraniotubularnih displazija. Od ostalih sličnih entiteta razlikuje se po zahvaćenosti kranijuma sklerozom, a osobina koju dijeli s bolestima iz te grupe je oblik metafiza dugih kostiju nalik Erlenmayerovim tikvicama. Radiološki nalazi koji potvrđuju te znakove ujedno su i dijagnostički kriteriji. CMD podijeljena je na autosomno dominantni i autosomno recesivni oblik. Patofiziologija ove bolesti još uvijek nije do kraja razjašnjena. Mnoga istraživanja autosomno dominantnog oblika locirala su mutacije, koje bi mogle biti potencijalni uzrok bolesti, na 5. kromosomu na genu koji kodira protein ANK. U zadnjih nekoliko godina došlo je i do otkrića potencijalnog uzroka autosomno recesivnog oblika bolesti, u ovom slučaju mutirani gen lociran je na 6. kromosomu i kodira gen za protein connexin 43. Patofiziološki dolazi do poremećaja u ravnoteži aktivnosti osteoblasta i osteoklasta što dovodi do karakterističnih znakova bolesti. Svi mehanizmi koji dovode do tog poremećaja još uvijek nisu u potpunosti razjašnjeni. Nažalost, kako trenutno nije potpuno jasna patofiziologija ove bolesti, tako ne postoji ni adekvatna i učinkovita terapija koja bi drastično mijenjala njezin prirodni tijek. Postoje opisani pokušaji liječenja ove bolesti utjecanjem na aktivnost osteoklasta, ali u većini slučajeva pokazali su se neuspješnima. Kirurške metode su pak palijativnog karaktera.[4] U ovom radu, dosad poznatu teoriju o CMD, prati prikaz slučaja kompleksne pacijentice, zasad jedine u RH kojoj je genskom analizom potvrđena dijagnoza CMD.
Abstract (english)
Craniometaphyseal dysplasia is a disease that belongs to the group of craniotubular dysplasias. It is distinct from other similar entities by sclerosis of the cranium, trait same as in other diseases is Erlenmayer flask like shape of long bones metaphysis. Radiological findings which confirm these traits are withal diagnostic criteria for this disease. CMD itself is divided in autosomal dominant and autosomal recessive form. Pathophysiology of this disease is not fully explained. Many researches of the autosomal dominant form located mutations, which could be responsible for the disease, at 5th chromosome on gene which codes for ANK protein. In the last few years potential cause for autosomal recessive form was discovered, in this case mutated gene is located at 6th chromosome and it codes for protein connexin 43. Pathophysiologicaly, disbalance in osteoblast and osteoclast activity leads to the caracteristic signs of disease. All pathways guiding to this disorder are still not completely explained. Unfortunately, as pathophysiology of this disease is not clear at this moment, there is no adequate and effective therapy which could drastically alter the natural course of this disease. Few attempts to manage this disease by affecting osteoclast activity are described, but most of them were unsuccessful. Surgical methods are only for palliative intent.[4] In this paper current knowledge about CMD is presented together with a case report about a complex female patient, so far only one in Croatia with CMD proven through genetic analysis.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:105:545570
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Embargo expiration date: 2020-10-15
Terms of useLicence In copyright icon
Created on2020-03-11 14:42:53