Laboratorijska dijagnostika autoimunih buloznih dermatoza

master's thesis

• Title (english): Laboratory diagnosis of autoimmune blistering disease
• Author: Lucija Zanze
• Mentor: Branka Marinović (mentor)
• Committee member: Zrinka Bukvić Mokos (predsjednik povjerenstva)
• Committee member: Romana Čeović (član povjerenstva)
• Committee member: Branka Marinović (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Dermatology); Zagreb
• Defense date and country: 2022-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Dermatovenerology

Abstract

Autoimune bulozne dermatoze (AIBD) skupina su više različitih bolesti koje se manifestiraju mjehurima i/ili erozijama na koži i/ili sluznicama. Patogenetski dolazi do vezivanja autoantitijela za strukturne proteine koji su zaduženi za intercelularno vezanje keratinocita i adheziju bazalnih keratinocita i dermisa. Autoantitijela mehanički onemogućuju adheziju stanica što za posljedicu ima stvaranje mjehura i erozija. U skupini pemfigusa separacija nastaje intraepidermalno, dok u skupini pemfigoida separacija nastaje subepidermalno. Rana dijagnostika autoimunih buloznih dermatoza ključna je za određivanje terapije i prognozu bolesti. Dijagnostika se temelji na anamnezi, kliničkoj slici, histopatologiji, direktnoj imunofluorescenciji (DIF) i određivanju protutijela iz seruma bolesnika. Zlatni standard za dijagnozu je direktna imunofluorescencija. Cirkulirajuća autoantitijela iz seruma bolesnika mogu se utvrditi pomoću indirektne imunofluorescencije (IIF) na uzorcima tkiva ljudske kože, jednjaka majmuna ili različitih rekombinantnih antigena. ELISA testovi koriste razne rekombinantne antigene te se koriste za detekciju bolesti i praćenje aktivnosti bolesti što omogućava bolju prilagodbu terapije. Kada prethodnim metodama nije utvrđena točna dijagnoza, u specijaliziranim laboratorijima primjenjuje se imunoblotting. Nova metoda - BIOCHIP temeljena na indirektnoj imunofluorescenciji omogućava istovremenu analizu više različitih testova na rekombinantnim antigenima. Dodatno, metoda - BIOCHIP mozaik uz uzorke rekombinantnih antigena sadržava i klasične uzorke tkiva te time omogućava da se kod kompliciranijih slučajeva skrati vrijeme dijagnostičkog postupka.

Abstract (english)

Autoimmune blistering diseases (AIBD) encompass several autoimmune diseases which manifest with blisters and/or erosions on the skin and/or mucous membranes. Patogenetically, autoantibodies attach to the structural proteins of the skin, which are responsible for the intercellular contact between keratinocytes and the adhesion of basal keratinocytes to the dermis. Autoantibodies mechanically separate the cells subsequently leading to separation, blisters, and erosions formation. In pemphigus diseases, blisters form within the epidermis, while in pemphigoid diseases they form under the epidermis. Early and accurate diagnosis of autoimmune bullous dermatoses is crucial for therapy and prognosis. The diagnosis is based on anamnesis, clinical picture, histopathology, direct immunofluorescence (DIF), and determination of circulating autoantibodies. The gold standard for diagnosis is direct immunofluorescence microscopy. Circulating autoantibodies can be detected via indirect immunofluorescence (IIF) of tissue substrates including human skin, monkey esophagus, or recombinant forms of the different target antigens. ELISA systems use various recombinant antigens, and apart from disease detection, they are used for monitoring the disease activity which can be helpful for treatment adjustment. Immunoblotting is an additional diagnostic method that is used in specialized laboratories when the final diagnosis has not been established by previous methods. The new method – BIOCHIP based on indirect immunofluorescence allows the analysis of several recombinant antigens at once. In addition, BIOCHIP mosaic consists of the standard tissue sections for indirect immunofluorescence and the recombinant monospecific IIF substrates. This approach allows autoantibody screening and confirmatory discrimination in a single incubation, and by that enables a time-effective approach, particularly in diagnostically difficult cases.

• Keywords: autoimune bulozne dermatoze; laboratorijska dijagnostika; imunofluorescencija; ELISA; BIOCHIP
• Keywords (english): autoimmune bullous dermatosis; laboratory diagnostics; immunofluorescence; ELISA; BIOCHIP
• Language: croatian
• URN:NBN: urn:nbn:hr:105:680033
• 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: 2023-03-23 09:32:40