Related Experiment Video

Updated: Dec 25, 2025

Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
07:56

Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts

Published on: January 29, 2018

18.1K

Paediatric Metabolic Bone Disease: A Lifetime Ahead

Carlos Gómez-Alonso1

  • 1Unidad de Gestión Clínica de Metabolismo Óseo y Mineral, Instituto Reina Sofía de Investigación, RedinRen ISCIII, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Spain. gomezcarlos@uniovi.es.

Advances in Therapy
|April 3, 2020
PubMed

Insights

This review covers genetic metabolic bone diseases in children, detailing their causes, effects, and treatments. Early diagnosis and intervention are crucial for managing these conditions and preventing long-term health issues.

Area of Science:

  • Pediatric Endocrinology
  • Skeletal Biology
  • Medical Genetics

Background:

  • Bone is vital for locomotion, support, and organ protection, and it regulates mineral balance.
  • Bone remodeling, a continuous cycle of resorption and formation, maintains bone mass and growth.
  • Disruptions in bone remodeling lead to bone disorders with significant clinical implications.

Purpose of the Study:

  • To review major genetic metabolic bone diseases in children.
  • To elucidate their pathophysiological mechanisms.
  • To discuss therapeutic interventions and long-term adult consequences.

Main Methods:

  • Literature review of genetic metabolic bone diseases in pediatric populations.
  • Analysis of pathophysiological pathways.
  • Synthesis of current therapeutic strategies and outcomes.

Main Results:

  • Genetic metabolic bone diseases in children manifest as fractures, deformities, and pain.
  • Accurate diagnosis through biochemical and genetic testing is essential for effective management.
  • These conditions require timely intervention to prevent persistent or worsening symptoms into adulthood.

Conclusions:

  • Genetic metabolic bone diseases necessitate a comprehensive understanding of their mechanisms.
  • Effective management involves precise diagnosis and tailored therapeutic approaches.
  • Long-term follow-up is critical to address adult consequences of childhood bone diseases and their treatments.

Keywords:
Bone metabolismFragility fracturesHypoparathyroidismHypophosphatasiaOsteogenesis imperfectaX-linked hypophosphataemic rickets

More Related Videos

Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation07:17

Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation

Published on: April 14, 2016

86.9K
Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification07:23

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification

Published on: December 3, 2016

12.3K

Related Concept Videos

Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
5.0K
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
142
What is the Skeletal System?01:02

What is the Skeletal System?

Overview
56.3K
The Functions of the Skeletal System01:22

The Functions of the Skeletal System

The most apparent functions of the skeletal system are support, protection, and movement. However, bone tissue also performs several other critical metabolic functions. For one, the bone matrix acts as a reservoir for a number of minerals important to the functioning of the body, especially calcium and phosphorus. These minerals, present in the bone tissue, can be released back into the bloodstream when required. Calcium ions, for example, are essential for muscle contractions and controlling...
5.6K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
633
Changes in the Appendicular Skeleton with Age01:09

Changes in the Appendicular Skeleton with Age

The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
3.3K