prikaz prve stranice dokumenta Dijagnoza i terapijski odgovor kod djece s neuronskom ceroidnom lipofuscinozom tip 2 u Kliničkom bolničkom centru Rijeka
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master's thesis
Dijagnoza i terapijski odgovor kod djece s neuronskom ceroidnom lipofuscinozom tip 2 u Kliničkom bolničkom centru Rijeka
2024. urn:nbn:hr:184:135082
Kostanjski, Marija
University of Rijeka
Faculty of Medicine
Department of Pediatrics

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Kostanjski, M. (2024). Dijagnoza i terapijski odgovor kod djece s neuronskom ceroidnom lipofuscinozom tip 2 u Kliničkom bolničkom centru Rijeka (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:135082

Kostanjski, Marija. "Dijagnoza i terapijski odgovor kod djece s neuronskom ceroidnom lipofuscinozom tip 2 u Kliničkom bolničkom centru Rijeka." Master's thesis, University of Rijeka, Faculty of Medicine, 2024. https://urn.nsk.hr/urn:nbn:hr:184:135082

Kostanjski, Marija. "Dijagnoza i terapijski odgovor kod djece s neuronskom ceroidnom lipofuscinozom tip 2 u Kliničkom bolničkom centru Rijeka." Master's thesis, University of Rijeka, Faculty of Medicine, 2024. https://urn.nsk.hr/urn:nbn:hr:184:135082

Kostanjski, M. (2024). 'Dijagnoza i terapijski odgovor kod djece s neuronskom ceroidnom lipofuscinozom tip 2 u Kliničkom bolničkom centru Rijeka', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 22 November 2024, https://urn.nsk.hr/urn:nbn:hr:184:135082

Kostanjski M. Dijagnoza i terapijski odgovor kod djece s neuronskom ceroidnom lipofuscinozom tip 2 u Kliničkom bolničkom centru Rijeka [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2024 [cited 2024 November 22] Available at: https://urn.nsk.hr/urn:nbn:hr:184:135082

M. Kostanjski, "Dijagnoza i terapijski odgovor kod djece s neuronskom ceroidnom lipofuscinozom tip 2 u Kliničkom bolničkom centru Rijeka", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2024. Available at: https://urn.nsk.hr/urn:nbn:hr:184:135082

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TitleDijagnoza i terapijski odgovor kod djece s neuronskom ceroidnom lipofuscinozom tip 2 u Kliničkom bolničkom centru Rijeka
Title (english)Diagnosis and treatment response in children with neuronal ceroid lipofuscinosis type 2 at the Clinical Hospital Center Rijeka
AuthorMarija Kostanjski
MentorJelena Radić Nišević (mentor)
Committee memberIgor Prpić (predsjednik povjerenstva)
Committee memberKristina Lah Tomulić (član povjerenstva)
Committee memberGoran Palčevski (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Rijeka
Defense date and country2024-07-12, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract
Uvod: Neuronska ceroidna lipofuscinoza tip 2 (CLN2) predstavlja rijedak autosomno recesivan, neurodegenerativni poremećaj uzrokovan mutacijom u CLN2 genu, što rezultira nedostatkom aktivnosti TPP1 enzima. Prvi simptomi obično se javljaju između druge i četvrte godine života te uključuju epileptičke napadaje, usporen razvoj govora i motoričke poremećaje. Ovaj rad naglašava važnost ranog otkrivanja i prepoznavanja bolesti kako bi se što prije započela terapija i poboljšala kvaliteta života pacijenata. Ispitanici i metode: U istraživanje je bilo uključeno šestero pacijenata (pet djevojčica i jedan dječak) s medijanom dobi pojave prvih simptoma od 3 godine. Analizirane su klinička slika, aktivnost TPP1 enzima, genetske mutacije u CLN2 genu te EEG i MR snimke mozga. Četvero djece primalo je enzimsku nadomjesnu terapiju cerliponazom alfa. Rezultati: Svi pacijenti pokazali su smanjenu aktivnost TPP1 enzima i različite složene heterozigotne mutacije u CLN2 genu, pri čemu je najčešća bila mutacija c.509-1G>C. EEG snimke s niskofrekventnim IFS-om rezultirale su pojavom FPO-a, što se manifestira kao registracija šiljaka i šiljka-val kompleksa generalizirano i/ili u okcipitalnim odvodima. MR snimke mozga otkrile su različite strukturne abnormalnosti poput malformacija stražnje lubanjske jame, hipoplazije vermisa te promjena u bijeloj tvari. Pacijenti koji su primali terapiju imali su sporiji gubitak funkcija prema adaptiranoj Hamburg skali u usporedbi s neliječenim pacijentima. Zaključak: Rano započinjanje terapije cerliponazom alfa kod pacijenata s CLN2 bolesti, iako ne liječi bolest, značajno usporava njezinu progresiju, posebice u motoričkim i jezičnim funkcijama. Ovi rezultati naglašavaju važnost rane dijagnoze i primjene terapije radi poboljšanja kvalitete života djece oboljele od CLN2 bolesti i njihovih obitelji.
Abstract (english)
Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2 gene, resulting in reduced TPP1 enzyme activity. Initial symptoms typically appear between 2 and 4 years of age, including epileptic seizures, language delay, and motor regression. This study highlights the importance of early diagnosis and treatment initiation to improve the patients’ quality of life. Participants and Methods: This study included six patients (five girls and one boy) with a median age of symptom onset at three years. Clinical features, TPP1 enzyme activity, genetic mutations in the CLN2 gene, as well as EEG and MRI brain scans, were analyzed. Four children received enzyme replacement therapy with cerliponase alfa. Results: All patients exhibited reduced TPP1 enzyme activity and various complex heterozygous mutations in the CLN2 gene, with the most common mutation being c.509-1G>C. EEG findings, obtained through low-frequency photostimulation, showed the photoparoxysmal response characterized by spike and slow-wave complexes in occipital leads and/or generalized patterns. MRI scans revealed structural brain abnormalities, including posterior fossa malformations, hypoplastic vermis, and white matter changes. Patients receiving therapy showed slower functional decline on the adapted Hamburg Scale compared to untreated patients. Conclusion: Early initiation of cerliponase alfa therapy in CLN2 patients, while not curative, significantly delays disease progression, particularly in motor and language functions. These findings underscore the importance of early diagnosis and therapeutic intervention in improving the quality of life in children affected by CLN2 disease and their families.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:184:135082
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
Terms of useLicence In copyright icon
Created on2024-07-08 10:07:39