Rickets, osteomalacia, and renal osteodystrophy. An update

Area of Science:

• Bone Metabolism and Mineralization Disorders
• Pediatric and Adult Endocrinology
• Nutritional Deficiencies

Background:

• Rickets, osteomalacia, and renal osteodystrophy are bone mineralization disorders.
• These conditions arise from deficiencies in calcium, phosphorus, or both.
• Diverse mechanisms lead to these diseases, often presenting similarly, necessitating laboratory diagnosis.

Purpose of the Study:

• To review the pathophysiology and clinical presentation of bone mineralization disorders.
• To highlight the diagnostic challenges posed by the stereotyped presentation of rickets, osteomalacia, and renal osteodystrophy.
• To discuss recent advancements in understanding calcium-phosphorus homeostasis and vitamin D metabolism for improved treatment.

Main Methods:

• Review of existing literature on bone mineralization disorders.
• Analysis of the clinical, radiological, and laboratory features of rickets, osteomalacia, and renal osteodystrophy.
• Synthesis of current knowledge on calcium-phosphorus balance and vitamin D metabolism.

Main Results:

• Rickets in children causes long bone deformities and dwarfism due to epiphyseal plate effects.
• In adults, these disorders manifest as osteopenia and pathological fractures.
• Laboratory investigations are crucial for differentiating between various causes of these conditions.

Conclusions:

• Effective treatments are now available for many children and adults with these disorders.
• Improved understanding of vitamin D metabolism and calcium-phosphorus hemostasis underpins therapeutic advancements.
• Early diagnosis and targeted treatment are essential for managing bone mineralization disorders.