Bone Abstracts

Introduction: Hypophosphatasia is a rare genetic disease caused by a mutation in the tissue-nonspecific alkaline phosphatase gene. TNSALP gene is located on the short arm of chromosome 1 (1p36.1-34). Over 200 point mutations have been described for this gene so far. Hypophosphatasia is inherited in an autosomal recessive or dominant way, which is related to the severity of symptoms. Pathophysiology of this disease is associated with the impaired function of osteoblasts that do...

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...