DECREASED BONE MASS IN THE NEWBORN: FROM METABOLIC FACTORS TO GENETIC MUTATIONS

• Main Author: Sandra Cerar (Author)
• Format: Book
• Published: The Society for Children with Metabolic Disorders, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Bone is metabolically active tissue where bone formation and bone resorption processes occur throughout life. Bone mass consists of osteoid, mineral component, and bone cells. Bone mineralization is regulated by mineral availability, parathyroid hormone, calcitonin, growth hormone, growth factors, and vitamin D, among others. During pregnancy, fetal skeletal development is influenced by endocrine, environmental, genetic, and epigenetic factors. Advances have been made in understanding the role of enzymes, transcription factors, signaling molecules, and epigenetic mechanisms in bone metabolism. Genetic factors, such as mutations in genes COL1A1, COL1A2, LGR4, LGR6, PTK2B, WNT1, PLS3, xYLT2, SOST, WNT16, ESR1, and RANKL, Sox9, RUNx2, osterix, osteocalcin, bone sialoprotein, PTH, PTHLH, and PTHR1, play an important role in osteoblast differentiation, bone formation, and maintenance. Preterm infants, malnourished or severely ill newborns, those treated with corticosteroids or diuretics, and those lacking mechanical bone growth stimulation are at risk of metabolic bone disease. Management of metabolic bone disease is based on identifying risk factors and quantitatively assessing mineral bone density using radiological and biochemical methods. Treatment involves avoiding risk factors, optimizing nutrition, and the possibility of using medications targeting signaling pathways to increase bone formation or prevent degradation, some of which have been already used in children.

Item Description

1318-4423
2712-3960
10.38031/slovpediatr-2024-3-09en