DOI: https://doi.org/10.36719/3104-4700/5/25-30
Specific Biochemical Markers in the Early Diagnosis of Connective Tissue Dysplasia in Children
Habiba Gadirli1* 
, Tahira Asgarova2
Abstract. Connective tissue disorders, particularly hereditary and secondary collagenoses manifesting during childhood, remain a global health challenge in modern pediatrics and biochemistry. The progression of these pathologies is directly linked to the extensive degradation of the extracellular matrix, which exacerbates mineral metabolism disorders and leads to profound pathological damage at the tissue level. Therefore, the primary objective of this study was to evaluate the role of specific biochemical markers in the early diagnosis of connective tissue dysplasias in children and to comparatively investigate the pathogenetic correlations between the end products of matrix degradation and the mineral-electrolyte profile across various clinical forms. To achieve this, 50 children aged 3–15 years with verified diagnoses were enrolled in the study and divided into two cohorts: the hereditary collagenosis group (n=18) and the secondary (rheumatic) form group (n=22). A control group comprising 10 healthy children was also established. Blood serum samples from all participants were analyzed using biochemical methods to determine the levels of matrix degradation markers, mineral metabolism indicators (Ca, P, Fe), and enzymatic reactivity (ALP). Our findings indicate that disease progression and structural genetic defects significantly accelerate tissue destruction. Notably, a definitive 1.6-fold increase in the levels of specific biochemical markers in the hereditary group compared to the control group demonstrates the intensity of the pathological process. While this intense degradation leads to severe calcium-phosphorus deficiency and a corresponding peak in compensatory bone reactivity in the hereditary group, the rheumatic group is characterized by a sharp decline (1.5-fold) in iron levels. Consequently, the parallel monitoring of these biochemical parameters holds substantial clinical significance for early diagnosis, prognosis, and differential analysis of pathogenetic forms of the disease.
Keywords: connective tissue, hydroxyproline, glycosaminoglycans, calcium, phosphorus, iron, alkaline phosphatase, children