An Overview of Rickets in Children

Abstract

Rickets is a common bone disease worldwide that is associated with disturbances in calcium and phosphate homeostasis and can lead to short stature and joint deformities. Rickets can be diagnosed based on history and physical examination, radiological features, and biochemical tests. It can be classified into 2 major groups based on phosphate or calcium levels: phosphopenic and calcipenic. Knowledge of categorization of the type of rickets is essential for prompt diagnosis and proper management. Nutritional rickets is a preventable disease through adequate intake of vitamin D through both dietary and sunlight exposure. There are other subtypes of rickets, such as vitamin D-dependent type 1 rickets and vitamin Ddependent type 2 rickets (due to defects in vitamin D metabolism), renal rickets (due to poor kidney function), and hypophosphatemic rickets (vitamin D-resistant rickets secondary to renal phosphate wasting wherein fibroblast growth factor-23 (FGF-23) often plays a major role), which requires closer monitoring and supplementation with activated vitamin D with or without phosphate supplements. An important development has been the introduction of burosumab, a human monoclonal antibody to FGF-23, which is approved for the treatment of X-linked hypophosphatemia among children 1 year and older.

Rickets in Children: An Update

“…These conditions are typical of vitamin D deficiency rickets and are less frequently observed in patients with hypophosphatemic rickets, especially XLHR. In contrast, patients with hypophosphatemic rickets can develop spontaneous dental abscesses and enamel defects [4]. Craniosynostosis, defined as the premature closure of cranial sutures, and Chiari I malformation have been reported as presenting signs in patients with XLHR [80,81].…”

“…Tooth abscesses or facial cellulitis on apparently non-carious teeth are common and suggest poor dentin mineralization [118]. Unlike vitamin D deficiency, craniotabes, rachitic rosary, and fractures are rare [4]. Finally, recent studies have shown higher incidence of craniovertebral abnormalities, especially craniosynostosis and Chiari type 1 malformation [80,81].…”

“…Rickets is a bone disease characterized by abnormal serum calcium (Ca) and phosphate (Pi) levels that may cause the development of abnormalities in chondrocytes' differentiation and maturation and, consequently, a defective mineralization of the growth plate [3]. It predominantly affects longer bones, leading to poor bone growth and typical rickets bony deformities such as bow-legs and knock-knees [4].…”

“…When Ca serum levels are inadequate, calcitriol may also interact with VDR expressed on osteoblasts, promoting osteoclast maturation, and Ca/Pi absorption by skeletal tissue[47]. Calcitriol synthesis, and consequently Ca/Pi serum levels, are increased by hypocalcemia, hypophosphatemia, and PTH while are decreased by calcitriol and FGF23[4].The role of PTH in mineral homeostasis has been well characterized. PTH is produced in the parathyroid glands and serves as the primary regulator of serum Ca and, to a lesser extent, of Pi.…”

The Role of Obesit Y in the De Velopment of Vitamin D Deficiency Rickets in Children

“…In modern conditions, the risk factors for vitamin D deficiency rickets have undergone further study due to changes in socio-economic, environmental conditions of life, health state of women of childbearing age, peculiarities of physical development and infant feeding [9].…”