Bone Abstracts

Alagille syndrome is a multiorganic disorder, which particularly manifests itself with cholestasis, characteristic facial features, circulatory systems defects, defects of the front segment of the eye, dysplastic changes in bones and kidneys and impaired angiogenesis. The disease is caused by Jagged 1 gene mutation (JAG, 20p12 chromosome) which encodes ligand for Notch receptor. JAG/ Notch signaling pathway plays important evolutionary role in cell differentiation in organogen...

Introduction: Pseudovitamin D deficiency rickets type I is inherited in an autosomal recessive pattern and forms usually as a result of mutation of CYP27B1 gene localised at chromosome 12. It leads to the deficiency of L 1-hydroxylase and abnormal hydroxylation of 25-hydroxycholecalciferol (25OHD) at C 1 which constitutes the last (renal) stage of transformation of vitamin D to 1,25dihydroxycholecalciferol (1,25(OH)2D). The clinical picture include...

In recent years, the important role in bone remodelling Wnt/β-catenin pathway is highlighted. Key receptor of this pathway is LDL receptor-related protein 5 (LRP5). It was demonstrated in adults that polymorphism in LRP5 gene was associated with bone mineral density and fracture risk. So far no such studies were conducted in children.The aim of the study was the analysis of LRP5 and COL1A1 genes in a patient with r...

Osteogenesis imperfecta (OI) is a genetic bone dysplasia characterized by recurrent fractures and reduced bone mineral density. The severity of its symptoms varied from very mild to severe, which strongly affect the quality of life and cause premature death.The aim of the study is to compare the clinical symptoms of different types of osteogenesis imperfecta and to present diagnostic difficulties based on the analysis of our patients.</p...

Introduction: Osteogenesis imperfecta (OI) is a genetically determined bone dysplasia characterised predominantlyby recurrent fractures, reduced bone mineral density and some clinical features connected with colagenopathy. However, not all patients have exhibit all this signs, and in this situation diagnosis may be difficult.Aim: The aim of this work is to compare clinical symptoms of various types of osteogenesis imperfecta and to present diagnostic pro...

Introduction: Hypophosphataemic rickets belongs to genetically determined rare disorders characterised by bone deformations, including varus deformity of the lower limbs and short stature. This type of rickets is related to renal phosphate wasting and hypophosphataemia. Less is known about bone turnover abnormalities and bone mass in this disease entity.Aim: The aim of this study was to analyse bone turnover markers and bone mineral density in patients s...

Introduction: The importance of vitamin D in metabolism, bone growth and functioning of many organs and systems (the plejotropic effect) has been broadly discussed in the literature recently. The systemic deficiency of vitamin D connected with the lower sunlight exposure and the decreased diet supply favours to bone mineral density lowering and the bone structure disorganization. More and more often the common vitamin deficiency in children and adolescents has been observed. I...