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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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Calcium is not only the most abundant mineral in bone but also the most abundant mineral in the human body. Calcium ions are needed for bone mineralization, tooth health, heart rate regulation and strength of contraction, blood coagulation, the contraction of smooth and skeletal muscle cells, and the regulation of nerve impulse conduction. The average calcium level in the blood is about 10 mg/dL. When the body cannot maintain this level, a person will experience hypo or hypercalcemia.
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Hereditary Rickets: A Quick Guide for the Pediatrician.

Abdulmajeed AlSubaihin1,2, Jennifer Harrington3,4

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Current Pediatric Reviews
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Summary

Genetic forms of rickets, impacting vitamin D and mineral balance, are increasingly recognized. Understanding their molecular basis aids diagnosis and treatment for children with these rare bone disorders.

Keywords:
FGF23.Ricketshypercalciuriahypocalcemiahypophosphatemiaphosphaturiavitamin D

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Genetic discoveries reveal new forms of rickets, classified as calciopenic or phosphopenic.
  • These disorders disrupt vitamin D metabolism or phosphate homeostasis.
  • Clinical presentation often overlaps with acquired rickets, complicating diagnosis.

Purpose of the Study:

  • To review known genetic forms of rickets.
  • To suggest a clinical approach for identifying and diagnosing hereditary rickets in children.

Main Methods:

  • Review of hereditary rickets listed in the Online Mendelian Inheritance in Man database.
  • Discussion of molecular basis and biochemical patterns.

Main Results:

  • Calciopenic rickets stem from defects in vitamin D activation or receptor function.
  • Phosphopenic rickets involve FGF23 dysregulation or impaired renal phosphate reabsorption.
  • Detailed understanding of genetic causes and biochemical profiles is crucial.

Conclusions:

  • Accurate diagnosis of hereditary rickets requires understanding its genetic underpinnings.
  • A systematic clinical approach can shorten the diagnostic odyssey for affected children.
  • Effective interventions depend on precise diagnosis, avoiding ineffective treatments.