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Meðfæddur skortur á skjaldkirtilshormónum hjá íslenskum börnum : niðurstöður kembileitar í 15 ár, 1979-1993

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Authors
Árni V. Þórsson
Þorvaldur Veigar Guðmundsson
Issue Date
1995-09-01

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Other Titles
Congenital hypothyroidism in Iceland 1979-1993
Citation
Læknablaðið 1995, 09(11):659, 661-6
Abstract
A nationwide screening for congenital hypothyroidism (CHT) was initiated in Iceland on January 1st 1979. From the beginning the screening consisted of TSH measurements from blood samples obtained on the fifth day of life on filter paper. TSH was initially assayed by RIA but since 1990 DELFIA fluoroimmunoassay has been used. During the 15 year period 1979-1993, a total of 65,892 children were born in Iceland. Participation in the screening program was 99.5%. The diagnosis of CHT was established in 21 cases, eight boys and 13 girls or 1/3138. Elevated TSH was found in 33 infants in the initial screening program, but on recall, thyroid function proved to be normal in 12 infants. Two infants had transient hypothyroidism presumably caused by TSH blocking antibodies of maternal origin. In one infant CHT was diagnosed on the first day of life because of a large goiter. Goiter was found in six infants on diagnosis, ectopia in six and no uptake on thyroid scan in three infants. In six infants thvroid scan was not performed. The diagnosis was delayed for 71 and 131 days respectively in two infants. Both infants had severe neonatal problems needing intensive care. On follow-up, those two children have a mild developmental delay. In the remaining 19 children mental development has been normal as judged by school performance and developmental tests. Growth has been within normal limits in all cases, mean SDS for height is 0.3. The incidence of CHT in Iceland is comparable to the results published recently in most of the other Nordic countries.
Kembileit með mælingum á thyroid stimulating hormone (TSH, skjaldvakakveikju) hófst á Íslandi 1. janúar 1979. Blóðsýni er tekið úr hæl á þerripappír á fimmta degi eftir fæðingu. Þessi blóðtaka var framkvæmd samtímis blóðtöku vegna kembileitar fyrir fenílketónmigu (phenylketonuria). Sýnum var safnað af öllu landinu á Rannsóknastofu Háskólans í meinefnafræði á Landspítalanum og send þaðan til Danmerkur. Frá upphafi og til ársloka 1991 voru mælingar á TSH framkvæmdar í Kaupmannahöfn, fyrst á Ríkisspítalanum og síðar á Statens Seruminstítut. TSH var mælt þar með geislaónæmismælingu (radioimmunoassay) en síðustu tvö árin með flúrónæmismælingu (DELFIA) og sömu aðferð er beitt hér heima. Á árunum 1979 til 1993 fæddust á Íslandi 65.892 börn samkvæmt skrám Hagstofunnar. Þátttaka í kembileitinni var afar góð, 65.581 blóðsýni kom til rannsóknar, eða yfir 99,5%. Alls voru 35 börn rannsökuð vegna hækkunar á TSH. Af þeim höfðu 12 eölilega starfsemi skjaldkirtils við endurteknar rannsóknir. Tvö börn greindust með tímabundna vanstarfsemi á skjöldungi. Þessi börn voru systkini. Alls greindist 21 barn með skjaldkirtilssjúkdóm. Í árslok 1993 var líkamsvöxtur barnanna í öllum tilfellum eðlilegur. Staðalfrávik hæðar (standard deviation score) var innan eðlilegra marka. Tíu börn voru yfir meðalhæð og ekkert barnanna var meira en einu staðalfráviki undir meðalhæð eftir aldri. Líkamsþroski og andlegur þroski barnanna var metinn eðlilegur nema hjá tveimur börnum, en hjá þeim hefur komið fram væg seinkun í námsþroska. Bæði þessi börn áttu við önnur alvarleg veikindi að stríða á fyrstu vikum ævinnar og greindust á þriðja og fjóröa mánuði. Nýgengi á meðfæddri skaldvakaþurrð (congenital hypothyroidismus, CHT) meðal íslenskra barna á 15 ára tímabili frá 1979 til 1993 var 1/3138. Þessi niðurstaða er í samræmi við niðurstöður frá nágrannalöndunum. Leiða má líkur að því, að kembileitin hafi bjargað flestum barnanna sem greindust frá heilaskaða og mismikilli þroskaheftingu og þar með sparað íslenska þjóðfélaginu verulegar fjárhæöir.
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