| Abstract | Novorođenački probir je sustav organiziranog traganja za nekim prirođenim bolestima u cjelokupnoj novorođenačkoj populaciji neke zemlje ili regije s ciljem njihovog prepoznavanja prije nego izazovu posljedice po zdravlje djeteta. U Republici Hrvatskoj se novorođenački probir provodi od 1978., obavezna je mjera zdravstvene zaštite, a trenutno program obuhvaća probir na 8 prirođenih bolesti. Od 1985. u program novorođenačkog probira uključena je konatalna hipotireoza (CH). Konatalna hipotireoza je najčešći endokrinološki poremećaj kod djece u svijetu, uzrokovan nedostatkom hormona štitnjače, tiroksina (T4) i trijodtironina (T3). Ako se pravovremeno ne dijagnosticira, izaziva teške posljedice po zdravlje djeteta što uključuje zaostajanje u rastu i neurološkom razvoju. Od početka provođenja programa do kraja 2016.godine pravovremeno je postavljeno više od 275 dijagnoza CH. Preporučeni uzorak za novorođenački probir je suha kap krvi na filter papiru (DBS) koja se prikuplja iz pete novorođenčeta 48-72 sata nakon rođenja. U svrhu postavljanja sumnje na CH u uzorcima DBS mjeri se koncentracija tireotropina (TSH) komercijalnom imunokemijskom metodom DELFIA. Novorođenčadi se krv, osim za svrhe novorođenačkog probira, uzima i za druge analize što dovodi do mogućnosti kontaminacije uzoraka suhe kapi krvi raznim antikoagulansima. Cilj ovog diplomskog rada bio je ispitati utjecaj antikoagulansa K2EDTA i litij heparina (LH) na određivanje koncentracije nTSH metodom DELFIA. U tu svrhu korišteno je 30 ostatnih uzoraka zdravih odraslih ispitanika muškog spola. Iz uzoraka pune krvi svakoga ispitanika nakapano je po 2 kruga DBS bez antikoagulansa, s antikoagulansom K2EDTA i antikoagulansom LH. U tim je uzorcima izmjerena koncentracija nTSH metodom DELFIA. Rezultati pokazuju da postoji razlika u izmjerenim vrijednostima nTSH u uzorcima s antikoagulansom K2EDTA odnosno LH u odnosu na uzorke bez antikoagulansa. Ta razlika između izmjerenih vrijednosti nije konstantna odnosno ne postoji konstantan pad ili porast vrijednosti nTSH u uzorcima s antikoagulansom u odnosu na uzorke bez antikoagulansa. Kod ispitanika s inicijalno višim koncentracijama nTSH vidimo značajan pad koncentracije nTSH u prisutnosti antikoagulansa u odnosu na uzorak bez aditiva. Zbog toga je potrebno dodatno ispitati utjecaj antikoagulansa pri višim koncentracijama nTSH, a pogotovo oko granične vrijednosti gdje je vrlo bitno imati pouzdane rezultate kako ne bi došlo do propuštanja novorođenčadi sa CH što bi uzrokovalo katastrofalne posljedice po zdravlje djeteta. |
| Abstract (english) | Neonatal screening is a system of organized search for some congenital diseases in the entire newborn population of a country or region with the aim of recognizing them before they cause consequences for the child's health. In Croatia, neonatal screening has been carried out since 1978. It is a mendatory health care measure and currently the program includes screening for 8 congenital diseases. Since 1985, conatal hypothyroidism (CH) has been included in the neonatal screening program. Congenital hypothyroidism is the most common endocrine disorder in children in the world, caused by a deficiency of thyroid hormones, thyroxine (T4) and triiodothyronine (T3). If not diagnosed in time, it causes severe consequences for the child's health, which includes delay in growth and neurological development. From the beginning of the implementation of the program until the end of 2016, more than 275 CH diagnoses were made. The recommended sample for neonatal screening is a dried blood spot (DBS) collected from the heel of the newborn 48-72 hours after birth. In order to suspect CH, thyrotropin (TSH) concentration is measured in DBS samples by the commercial immunochemical method DELFIA. Except for neonatal screening purposes, the blood of newborns is taken for other analyzes, which leads to the possibility of contamination of dried blood spot samples with various anticoagulants. The aim of this thesis was to examine the effect of the anticoagulant K2EDTA and lithium heparin (LH) on the determination of nTSH concentration by the DELFIA method. For this purpose, 30 residual samples of healthy adult male subjects were used. From the whole blood samples of each subject, 2 rounds of DBS without anticoagulant, 2 with anticoagulant K2EDTA and 2 anticoagulant LH were prepared. In these samples, the concentration of nTSH was measured by the DELFIA method. The results show that there is a difference in the measured values of nTSH in the samples with anticoagulant K2EDTA and samples with antikoagulant LH compared to the samples without anticoagulant. This difference between the measured values is not constant, ie there is no constant decrease or increase of nTSH values in samples with anticoagulant compared to samples without anticoagulant. In subjects with initially higher nTSH concentrations, we see a significant decrease in nTSH concentration in the presence of anticoagulants compared to the sample without additives. Therefore, it is necessary to further examine the impact of anticoagulants at higher concentrations of nTSH, especially around cut-off value where it is very important to have reliable results to prevent missing newborns with CH which would cause catastrophic consequences for the child's health. |
