Autoimmune polyglandular syndromes

master's thesis

• Title (croatian): Autoimuni poliglandularni sindromi
• Author: Or Lavie
• Mentor: Katja Dumić Kubat (mentor)
• Committee member: Katja Dumić Kubat (predsjednik povjerenstva)
• Committee member: Nevena Krnić (član povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

The autoimmune polyglandular syndrome (APS) represents a group of complexdisorders of immune dysregulation that leads to autoimmunity and development of atleast two different endocrine or non-endocrine abnormalities. According to aetiologyand pathogenesis, APS can present with three distinct phenotypes: APS type 1, APStype 2 and IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked)syndrome. Both, APS type 1 and IPEX syndrome are monogenic disorders thatdevelop in infancy or early childhood, while APS type 2 is a complex polygenicdisorder that usually presents later, in adolescence or adulthood. Clinical presentationcan be acute such as in diabetes mellitus, symptomatic and slow-progressive such asin adrenocortical insufficiency or even asymptomatic such as in celiac disease.Autoantibodies precede tissue destruction, and measurement of these autoantibodiescan be used to identify risk of subsequent tissue insufficiency.

The diagnosis is often challenging, mainly due to rarity of condition, variability of theearly clinical picture and frequently insidious course of disease. Therefore, wheneverone organ-specific autoimmune disorder is diagnosed important to always have a highindex of suspicion for possible APS. Early diagnosis permits active screening forprogressive tissue damage, while early initiation of treatment prevents acute and long-term complications.

Abstract (croatian)

Autoimuni poliglandularni sindrom (APS) spada u skupinu poremećaja imunosneregulacije koji dovode do pojave autoimunosti i razvoja najmanje dvije različiteendokrine ili neendokrine bolesti. Prema etiologiji i patogenezi, APS se možeprezentirati s tri različita fenotipa: APS tip 1, APS tip 2 i IPEX (imuna disfunkcija,poliendokrinopatija, enteropatija, X-vezani) sindrom. APS tip 1 i IPEX sindrom sumonogeni poremećaji koji se prezentiraju u dojenčko doba ili ranom djetinjstvu, dok jeAPS tip 2 kompleksan poligenski poremećaj koji se obično razvija kasnije, odnosno uadolescenciji ili odrasloj dobi. Klinička prezentacija može biti akutna, kao što je slučaju dijabetes melitusu, simptomatska i sporo progresivna, kao u adrenkortikalnojinsuficijenciji, ili pak asimptomatska, kao u celijakiji. Pojava autoantitijela prethodirazaranju tkiva, a mjerenje istih se može se koristiti za detekciju i prepoznavanje rizikaza razvoja moguće insuficijencije ciljnih tkiva.

Kako se radi o rijetkim bolestima s varijabilnom kliničkom prezentacijom te podmuklimtijekom, postavljanje točne dijagnoze predstavlja izazov. Iz tog razloga je u bolesnikakoji boluju od jednog autoimunosnog poremećaja važno uvijek imati visok indeks sumnje da se radi o mogućem APS-u. Rana dijagnoza omogućuje aktivno traganje zapridruženim bolestima, a pravovremeno uvođenje terapije sprječava akutne idugoročne komplikacije.

• Keywords: autoimmune polyglandular syndrome; APECED; IPEX; immuneregulation; autoimmunity
• Keywords (croatian): autoimuni poliglandularni sindrom; APECED; IPEX; imunosnaregulacija; autoimunost
• Language: english
• URN:NBN: urn:nbn:hr:105:034496
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-09-01 11:28:31