| Abstract | Cilj istraživanja: Cilj istraživanja bio je odrediti učestalost prenatalnog i/ili postnatalnog poremećaja rasta u ispitanika s mikrodelecijom i/ili mikroduplikacijom te utvrditi u kojoj se životnoj dobi češće javlja.
Ispitanici i metode: Provedeno je retrospektivno presječno istraživanje analiziranjem podataka 87 bolesnika s rijetkim mikrodelecijskim i mikroduplikacijskim sindromom pri Klinici za dječje bolesti KBC-a Split u razdoblju od 1.1.2016. do 31.12.2019. Prikazani su podatci o spolu, dobi, lokusu, kariotipu i tipu prenatalnog i/ili postnatalnog poremećaja rasta.
Rezultati: Od 87 ispitanika s rijetkim strukturnim poremećajima genoma 55 (63%) je imalo neki oblik poremećaja rasta. Prenatalni poremećaj rasta pronađen je u njih 13 (14,7%), a veći dio ispitanika imao je hipotrofiju, njih 7 (7,9%). Postnatalni poremećaj rasta u visinu pronađen je u 17,6% ispitanika. Od toga je najviše bilo niskog rasta (14,4%), a prevladavao je u ispitanika s mikrodelecijskim sindromima (12%). Među postnatalnim poremećajima tjelesne mase najviše je bilo pothranjenih (8,2%), a većina pothranjenih je imala mikrodeleciju (6%). U postnatalnim poremećajima rasta najviše je bilo odstupanja u opsegu glave gdje su prevladavale mikrocefalije (27,8%), a od toga najviše onih s potvrđenim mikrodelecijskim sindromom (21%). Najčešći specifični mikrodelecijski sindromi s niskim rastom su WBS, DiGeorge i 3p delecijski sindrom. Ispitanika s poremećajem rasta najviše je bilo u dobnoj skupini od oko 10 godina, a onih bez u skupini između 5 i 15 godina. Medijan dobi ispitanika s prenatalnim i/ili postnatalnim poremećajem rasta je 6,3 godina. Ispitanici koji su u ranijoj životnoj dobi značajno učestalije imaju prenatalni i/ili postnatalni poremećaj rasta (medijan=5,8 godina) nego nešto stariji ispitanici (medijan=15,8 godina). Neuparenim dvosmjernim Studentovim T-testom dobivena je statistički značajna razlika P<0,00001.
Zaključci: U populaciji djece sa strukturnim poremećajem genoma poremećaj rasta jedan je od najvažnijih simptoma, kako u prenatalnom, tako i u postnatalnom razdoblju. To potkrijepljuje tvrdnju da genetski čimbenici imaju bitan utjecaj na rast i razvoj. Svi oblici postnatalnog poremećaja rasta učestaliji su u mikrodelecijskim sindromima, u odnosu na mikroduplikacijske sindrome, dok je zastoj rasta, u općenitom smislu, učestaliji u ranom djetinjstvu sukladno s podatcima iz dosadašnje literature. |
| Abstract (english) | Objectives: The aim of the study was to determine the frequency of prenatal and/or postnatal growth disorder in subjects with microdeletion and/or microduplication and to determine at what age it occurs more often.
Materials and methods: A retrospective cross-sectional study was conducted by analyzing the data of 87 patients with rare microdeletion and microduplication syndrome at the Clinic for Children's Diseases of the University Hospital of Split in the period from 1 January 2016 to 31 December 2019. Data on sex, age, locus, karyotype, and type of prenatal and/or postnatal growth disorder are presented.
Results: Of the 87 subjects with rare structural genome disorders, 55 (63%) had some form of growth disorder. Prenatal growth disorder was found in 13 of them (14.7%), and the majority of subjects had hypotrophy, 7 of them (7.9%). Postnatal growth disorder was found in 17.6% of subjects. Of these, most were of low growth (14.4%), and it was prevalent in subjects with microdeletion syndromes (12%). Among postnatal weight disorders, 7 (8.2%) were the most malnourished, and most of the malnourished had microdeletion (6%). In postnatal growth disorders, there were the most deviations in the head circumference where microcephaly prevailed (27.8%), and most of those with confirmed microdeletion syndrome (21%). The most common specific low-growth microdeletion syndromes are WBS, DiGeorge, and 3p deletion syndrome. Subjects with growth disorders were mostly in the age group of about 10 years, and those without growth disorders in the group were between 5 and 15 years. The median age of subjects with prenatal and/or postnatal growth disorder was 6.3 years. Subjects at an earlier age had a significantly higher incidence of prenatal and/or postnatal growth disorder (median=5.8 years) than slightly older subjects (median=15.8 years). A statistically significant difference P <0.00001 was obtained by unpaired two-way Student's T test.
Conclusion: Among children with structural genome disorder, growth disorder is one of the most important symptoms, both in the prenatal and postnatal period. This supports the claim that genetic factors have a significant impact on growth and development. All forms of postnatal growth disorder are more common in microdeletion syndromes, compared to microduplication syndromes, while growth retardation, in general, is more common in early childhood, according to the literature. |
