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Related Concept Videos

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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.
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Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
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Minerals are essential nutrients that the human body needs in small amounts to work properly. They play a vital role in many bodily functions, such as building strong bones and transmitting nerve impulses. Some minerals are needed for hormone production or to maintain a normal heartbeat. Major minerals include calcium, phosphorus, potassium, sulfur, sodium, chlorine, and magnesium, while trace minerals include iron, manganese, copper, iodine, zinc, cobalt, fluoride, and selenium.
 
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Developments in rare bone diseases and mineral disorders.

Siobhan Bacon1, Rachel Crowley2

  • 1University College Dublin, Dublin, Ireland.

Therapeutic Advances in Chronic Disease
|January 19, 2018
PubMed
Summary

Recent advances offer new treatments for rare bone diseases like osteogenesis imperfecta and X-linked hypophosphatemia. Novel therapies show promise beyond traditional methods for improved patient outcomes.

Keywords:
X-linked hypophosphataemiahypophosphatasiaosteogenesis imperfectaosteopetrosisprimary hypoparathyroidism

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Area of Science:

  • Rare bone diseases
  • Genetics and endocrinology
  • Skeletal disorders

Background:

  • Significant advances in rare bone disease research over the past decade.
  • Existing treatments for conditions like osteogenesis imperfecta (OI) have limitations.
  • Current management of hypoparathyroidism and X-linked hypophosphatemia (XLH) has associated challenges.

Purpose of the Study:

  • To review recent advancements in the classification and treatment of rare bone diseases.
  • To discuss novel therapeutic options for osteogenesis imperfecta (OI).
  • To explore emerging treatments for X-linked hypophosphatemia (XLH), primary hypoparathyroidism, osteopetrosis, and hypophosphatasia.

Main Methods:

  • Review of current literature on rare bone diseases.
  • Discussion of expanded classification systems for osteogenesis imperfecta.
  • Analysis of novel therapeutic agents and approaches.

Main Results:

  • Bisphosphonates are common for OI, but their efficacy in reducing fractures is debated.
  • Promising therapies for OI include denosumab, teriparatide, sclerostin inhibition, TGF-β inhibition, and gene therapy.
  • A human anti-FGF23 antibody (KRN23) shows potential for XLH treatment.
  • Recombinant parathyroid hormone (1-84) offers improved safety and quality of life for hypoparathyroidism.
  • Other discussed therapies include RANKL inhibitors for osteopetrosis and enzyme replacement for hypophosphatasia.

Conclusions:

  • The field of rare bone diseases is rapidly evolving with new diagnostic and therapeutic strategies.
  • Emerging treatments offer improved management and potential for better outcomes in conditions like OI, XLH, and hypoparathyroidism.
  • Continued research into targeted therapies is crucial for addressing unmet needs in rare skeletal disorders.