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master's thesis
Neonatalni diabetes melitus
Zagreb: University of Zagreb, School of Medicine, 2022. urn:nbn:hr:105:197995
Uglešić, Anamaria
University of Zagreb
School of Medicine
Department of Pediatrics

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

Cite this document

Uglešić, A. (2022). Neonatalni diabetes melitus (Master's thesis). Zagreb: University of Zagreb, School of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:197995

Uglešić, Anamaria. "Neonatalni diabetes melitus." Master's thesis, University of Zagreb, School of Medicine, 2022. https://urn.nsk.hr/urn:nbn:hr:105:197995

Uglešić, Anamaria. "Neonatalni diabetes melitus." Master's thesis, University of Zagreb, School of Medicine, 2022. https://urn.nsk.hr/urn:nbn:hr:105:197995

Uglešić, A. (2022). 'Neonatalni diabetes melitus', Master's thesis, University of Zagreb, School of Medicine, accessed 29 December 2024, https://urn.nsk.hr/urn:nbn:hr:105:197995

Uglešić A. Neonatalni diabetes melitus [Master's thesis]. Zagreb: University of Zagreb, School of Medicine; 2022 [cited 2024 December 29] Available at: https://urn.nsk.hr/urn:nbn:hr:105:197995

A. Uglešić, "Neonatalni diabetes melitus", Master's thesis, University of Zagreb, School of Medicine, Zagreb, 2022. Available at: https://urn.nsk.hr/urn:nbn:hr:105:197995

Metadata
TitleNeonatalni diabetes melitus
Title (english)Neonatal diabetes mellitus
AuthorAnamaria Uglešić
MentorKatja Dumić Kubat (mentor)
Committee memberNevena Krnić (predsjednik povjerenstva)
Committee memberMarija Jelušić (član povjerenstva)
Committee memberKatja Dumić Kubat (član povjerenstva)
GranterUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Zagreb
Defense date and country2022-07-15, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract
Neonatalni dijabetes melitus (NDM) rijetki je monogenski oblik dijabetesa obilježen pojavom hiperglikemije najčešće u prvih šest mjeseci života. Incidencija se procjenjuje na između 1/89 000 – 1/161 000 novorođenčadi. Ovisno o kliničkoj slici manifestira se kao tranzitorni (prolazni) NDM, perzistentni (trajni) NDM ili kao dio različitih sindroma. Perzistentni oblik bolesti zahtijeva kontinuirano, doživotno liječenje, dok tranzitorni NDM nakon nekoliko tjedana ili mjeseci liječenja ulazi u remisiju. Relaps se javlja u gotovo 80% bolesnika, najčešće u adolescenciji ili mlađoj odrasloj dobi. Genetske mutacije nađene su u oko 80% djece oboljele od NDM-a. Najčešći genetski poremećaji koji dovode do NDM-a uključuju poremećaje upisa na kromosomskom lokusu 6q24, mutacije gena za KATP kanal te mutacije gena INS. Klinička slika se razlikuje ovisno o tipu NDM-a te može varirati od slučajno otkrivene asimptomatske hiperglikemije do teške dehidracije i dijabetičke ketoacidoze (DKA). U postavljanju dijagnoze neophodno je genetičko testiranje. Precizna dijagnoza određuje vrstu terapije. U terapiji NDM-a najčešće se koristi inzulin. Bolesnici koji imaju NDM zbog mutacija KATP kanala (geni KCNJ11 i ABCC8) mogu dobro reagirati na peroralnu terapiju sulfonilurejom.
Abstract (english)
Neonatal diabetes mellitus (NDM) is a rare monogenic form of diabetes which is defined by the onset of persistent hyperglycaemia within the first six months of life. The incidence is estimated at between 1/89 000 - 1/161 000 newborns. Neonatal DM can be transient, permanent, or can be a part of a syndrome. The persistent form of the disease requires continuous, lifelong treatment, while transient NDM enters remission after a few weeks or months of treatment.The relapse occurs in almost 80% of patients, often in adolescence or in young adulthood. Genetic mutations were found in about 80% of cases of children with NDM. The most common genetic disorders that lead to NDM include imprinting disorders at locus 6q24 of the sixth chromosome, KATP channel gene mutations, and INS gene mutations. A clinical presentation varies depending on the type of NDM and can range from the accidental asymptomatic hyperglycaemia to severe dehydration and diabetic ketoacidosis (DKA). Genetic testing is important as a specific genetic mutation can significantly alter the treatment and outcome. Patients with mutations that encode subunits of the KATP channel can be managed with sulfonylurea oral therapy while patients with other genetic mutations require insulin treatment.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:105:197995
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 on2023-03-20 09:31:29