Objective: establishing the types and frequency of disembriogenetic stigma in children with joint hypermobility given the clinical and laboratory features, genetic component and endocrine regulation of these disorders in a late period upon the accident.
Materials and methods: Children (n = 109) inhabiting the radiologically contaminated territories and having the connective tissue dysplasia (CTD) signs were involved in the study. Diseases in family history, ossalgia complaints, fractures in a personal history, bone disembriogenetic stigma, joint hypermobility, type of somatic diseases, blood serum biochemical parameters (namely calcium, alkaline phosphatase, total protein, cholesterol, creatinine, iron, ferritin content), serum cortisol, free thyroxine, pituitary thyroid-stimulating hormone (TSH) levels, free amino acid composition in urine and radiation dose were considered.
Results: Radiation doses in children having the CTD ranged from (0.37 ± 0.11) mSv to (0.56 ± 0.10) mSv with no difference from that in those without CTD. Joint hypermobility (JHM) correlated with cancer in family history (rs = 0.53) and lower extremity varicose vein disease (rs = 0.40) (p < 0.05). Incidence of ossalgia, easy fatigability, and bone fractures was higher in children with CTD. Anomalies of the dentofacial system were first in line (38.5 %) in these children. Proportion of children with grade II JHM and platypodia was lower (rs = 0.42), but with lower extremity deformations was higher (rs = 0.68) (p < 0.05) vs. in the control group. Iron and ferritin deficiencies both with lymphocytosis were more common in children with CTD than in the comparison group (p < 0.05). The increased content of oxyproline, lysine, proline both with glycine deficiency were detected in children having the CTD, i.e. an imbalance of amino acids from the collagen content was observed featuring a predominance of catabolic processes over anabolic ones. There was a direct correlation between the TSH level and the JHM grade (rs = 0.49), although the values of hormone concentration in these children did not exceed the reference range (maximum values were 3.3 μIU/ml).
Conclusions: The revealed abnormalities in amino acid content, ferrokinetics, and thyroid function indices can affect the collagen formation, organic matrix structure of bone tissue and significantly deregulate the hemato- poiesis. The later can underlie the pathways of haematologic malignancy development.
Meta: vstanovyty vydy ta chastotu stygm dyzembriogenezu u ditey̆ z gipermobil'nistiu suglobiv z urakhuvanniam kliniko-laboratornykh osoblyvostey̆, genetychnoï komponenty ta endokrynnoï reguliatsiï tsykh rozladiv u viddale- nyy̆ pisliaavariy̆nyy̆ period.Materialy i metody. Obstezheno 109 ditey̆ – zhyteliv kontaminovanykh radionuklidamy terytoriy̆, z proiavamy dysplaziï spoluchnoï tkanyny (DST). Vrakhovuvaly khvoroby u rodovodi, skargy ditey̆ na osalgiï, perelomy kistok v anamnezi, kistkovi stygmy dyzembriogenezu, naiavnist' gipermobil'nosti suglobiv, vyd somatychnoï patologiï, biokhimichni pokaznyky krovi (riven' kal'tsiiu, luzhnoï fosfatazy, zagal'nogo bilka, kholesterynu, kreatyninu, zaliza, ferytynu), riven' kortyzolu, vil'nogo tyroksynu, tyreotropnogo gormonu gipofizu (TTG), sklad vil'nykh aminokyslot v sechi ta dozy oprominennia.Rezul'taty. Dozy oprominennia ditey̆ z DST kolyvalys' vid (0,37 ± 0,11) mZv do (0,56 ± 0,10) mZv i ne vidriznia- lys' vid doz osib bez DST. Gipermobil'nist' suglobiv (GMS) u ditey̆ koreliuvala z naiavnistiu u rodovodi onko- logichnykh zakhvoriuvan' (rs = 0,53) i varykoznoï khvoroby nyzhnikh kintsivok (rs = 0,40) (r < 0,05). Chastota osalgiy̆, shvydkoï vtomliuvanosti i perelomiv kistok bula vyshchoiu u ditey̆ z DST. Na pershomu mistsi u tsykh ditey̆ znakhodylys' chastota anomaliy̆ rozvytku zuboshchelepnoï systemy (38,5 %). Chastka ditey̆ z GMS II stupenia z ploskostopistiu bu- la nyzhchoiu (rs = 0,42), a z deformatsiieiu nyzhnikh kintsivok – vyshchoiu (rs = 0,68) (r < 0,05), nizh u grupi kontroliu. Defitsyt zaliza, ferytynu i limfotsytozy sposterigalys' chastishe u ditey̆ z DST, nizh v grupi porivniannia (r < 0,05). U ditey̆ z DST buv pidvyshchenym vmist oksyprolinu, lizynu, prolinu i vyiavliavsia defitsyt glitsynu, tobto sposterigav- sia dysbalans aminokyslot, iaki vkhodiat' do skladu kolagenu, perevazhannia katabolichnykh protsesiv nad anabolichny- my. Vstanovleno priamyy̆ koreliatsiy̆nyy̆ zv’iazok mizh rivnem TTG i stupenem GMS (rs = 0,49), khocha znachennia kontse- ntratsiï TTG v krovi tsykh ditey̆ ne perevyshchuvaly referentni (maksymal'ni velychyny stanovyly 3,3 mkME/ml). Vysnovky. Vyznacheni zminy u skladi aminokyslot, ferokinetychnykh protsesakh, pokaznykakh funktsiï shchytopodibnoï zalozy mozhut' vplyvaty na kolagenoutvorennia, strukturu organichnogo matryksu kistkovoï tkanyny ta suttievo de- reguliuvaty protsesy krovotvorennia, shcho mozhe lezhaty v osnovi mekhanizmiv rozvytku onkogematologichnoï patologiï.
Keywords: amino acids; children; connective tissue dysplasia; disembriogenetic stigma; endocrine regulation; iron; joint hypermobility; radiation dose.
V. G. Bebeshko, K. M. Bruslova, T. T. Volodina, L. O. Lyashenko, N. M. Tsvetkova, I. V. Trychlib, T. O. Chernysh, V. G. Boyarskiy, L. O. Gonchar, N. V. Kavardakova.