Epidemiološko-klinička studija kongenitalnog hipotirodizma zasnovana na rezultatima 30 godina skrininga novorođenčadi u Srbiji

Abstract

Uvod: Kongenitalni hipotiroidizam (KH) je najčešće kongenitalno endokrinološko oboljenje, koje je u eri pre skrininga bilo vodeći uzrok mentalne retardacije. Program skrininga na KH, omogućio je pravovremeno postavljanje dijagnoze i rani početak supstitucione terapije, što je dovelo do skoro potpunog iščezavanja mentalne retardacije pouzrokovane ovim oboljenjem. U Srbiji, skrining na KH započet je 1983. godine jednogodišnjom pilot studijom u porodilištima grada Beograda, a potom se proširio na ostale regione Srbije. Ciljevi ovog istraživanja su bili određivanje kumulativne incidencije i prevalencije KH na teritoriji Srbije bez pokrajina u periodu od 1983. do 2013. godine, analiza kliničkih i laboratorijskih karakteristika dece sa KH, kao i definisanje glavnih kliničkih i laboratorijskih karakteristika dece sa trajnim i tranzitornim oblikom bolesti. Metodologija: U Srbiji, skrining na KH se bazira na određivanju koncentracije tireostimulišućeg hormona (TSH) iz uzorka kapilarne krvi. Tokom perioda 1983-1987. granična vrednost TSH je bila 30 mIJ/l (P1), 1988-1997. granična vrednost TSH je iznosila 15 mIJ/l (P2), 1998-2006. 10 mIJ/l (P3), a 2007- 2013. iznosila je 9 mIJ/l (P4). Koncentracija TSH između granične i 40 mIJ/l zahtevaju ponavljanje uzoraka, dok koncentracija TSH ≥40 mIJ/l ukazuje na verovatno postojanje primarnog KH i novorođenče se odmah hospitalizuje Na osnovu scintigrafskog nalaza, svi ispitanici su podeljeni u dve grupe, sa trajnim i tranzitornim oblikom KH. Trajni KH su imala novorođenčad s atireozom, ektopijom, hemiagenezijom i hipoplazijom tiroideje. Novorođenčad čija je tiroideja bila na mestu, normalne veličine ili uvećana, sa normalnom funkcijom posle reevaluacije u uzrastu od tri godine, svrstana su u grupu sa tranzitonim KH. Rezultati: U periodu 1983-2013. godine programom skrininga na KH na teritoriji Srbije bez pokrajina obuhvaćeno je 1.547.122 novorođenčeta. Primarni KH je dijagnostikovan kod 434, 59,7% (n=259) devojčica i 40,3% (n=175) dečaka. Kumulativna incidencija KH je iznosila 28,6 na 100 000 (1:3495), dok je prevalencije sa 1:5084 u P1 porasla na 1:1807 u P4...

Introduction: Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder and the main cause of preventable mental retardation. Newborn screening (NBS) programs for CH have been established in most countries in order to enable early diagnosis and treatment of CH, thus preventing related neurodevelopmental complications. In Serbia, the CH screening program was initiated as a pilot study in Belgrade maternity hospitals in 1983 and then integrated into all maternity hospitals in Central Serbia. The purpose of the present study was to determine the incidence of CH from 1983 to 2013, and to assess changes in prevalence and etiology of CH during the study period. The secondary goal was to analyze clinical and laboratory characteristics of children with CH. Metodology: Newborn screening program for CH was based on measuring neonatal thyroid-stimulating hormone (TSH) levels using a 30 mU/l cutoff until 12/1987 (P1), 15 mU/l until 12/1997 (P2), 10 mU/l until 12/2006 (P3) and 9 mU/l thereafter (P4). When the TSH value was between cutoff and 40 mU/l, a positive was suspected and a new blood sample was extracted, while TSH result ≥ 40 mU/l was considered positive for CH and the newborn was immediately referred to the hospital. In regards to etiology, according to the scintigraphy result, all of the patients were classified as having permanent or transient CH. The patients with athyreosis, ectopy, hemiagenesis and hypoplasia in situ were considered to have permanent CH. The patients with eutopic normally sized gland and eutopic goiter whose thyroid function was within the normal range after a reevaluation at the age of 3, were considered to have transient CH. Results: During the study period from 1983 to 2013, there were 1,547,122 live births screened for CH. Primary CH was detected in 434 newborns, 59.7% (n=259) female and 40.3% (n=175) male, resulting in an overall incidence of 28.6 per 100 000 (1:3495). Among children with CH, 325 had permanent and 65 transient CH. The incidences standardized in regard to the number of screened newborns during each period showed significant increase (p<0.001) from 1:5084 in P1 to 1:1807 in P4...