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Hypophosphatemic rickets.

Jagtap VS, Sarathi V, Lila AR, Bandgar T, Menon P, Shah NS - Indian J Endocrinol Metab (2012)

Bottom Line: Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far.Newer disorders are being added as the mechanisms in this axis get discovered.This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Seth G. S. Medical College, Parel, Mumbai, India.

ABSTRACT
Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets. The other common forms are autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia. Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin. Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far. Newer disorders are being added as the mechanisms in this axis get discovered. This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization.

No MeSH data available.


Related in: MedlinePlus

Interaction of major players involved in phosphate homeostasis
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Figure 2: Interaction of major players involved in phosphate homeostasis

Mentions: Knowledge regarding the pathophysiology of phosphate homeostasis is essential for better understanding of hypophosphatemic rickets. Fibroblast growth factor 23 (FGF23), PTH, and calcitriol play a major role in the phosphate homeostasis and their interaction is summarized in Figure 2. FGF23, a phosphatonin, is the most important player that is implicated in the pathogenesis of most of the disorders with hypophosphatemic rickets/osteomalacia. It binds to FGF receptor 1c (FGFR1c) on cell membranes. Klotho is another important protein in the phosphate homeostasis. Interaction of Klotho with the FGFR1c converts it into a receptor specific for FGF23 function.[7] Decrease in the serum phosphorus level decreases FGF23 and PTH levels, while 1,25(OH)2D level is increased. Increase in serum phosphorus leads to opposite changes. Calcitriol [1,25(OH)2D] increases serum phosphorus and FGF23, while it decreases PTH.[8] Increase in FGF23 leads to decrease in PTH and calcitriol levels. PTH increases calcitriol and FGF23 levels.[8–10]


Hypophosphatemic rickets.

Jagtap VS, Sarathi V, Lila AR, Bandgar T, Menon P, Shah NS - Indian J Endocrinol Metab (2012)

Interaction of major players involved in phosphate homeostasis
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3313733&req=5

Figure 2: Interaction of major players involved in phosphate homeostasis
Mentions: Knowledge regarding the pathophysiology of phosphate homeostasis is essential for better understanding of hypophosphatemic rickets. Fibroblast growth factor 23 (FGF23), PTH, and calcitriol play a major role in the phosphate homeostasis and their interaction is summarized in Figure 2. FGF23, a phosphatonin, is the most important player that is implicated in the pathogenesis of most of the disorders with hypophosphatemic rickets/osteomalacia. It binds to FGF receptor 1c (FGFR1c) on cell membranes. Klotho is another important protein in the phosphate homeostasis. Interaction of Klotho with the FGFR1c converts it into a receptor specific for FGF23 function.[7] Decrease in the serum phosphorus level decreases FGF23 and PTH levels, while 1,25(OH)2D level is increased. Increase in serum phosphorus leads to opposite changes. Calcitriol [1,25(OH)2D] increases serum phosphorus and FGF23, while it decreases PTH.[8] Increase in FGF23 leads to decrease in PTH and calcitriol levels. PTH increases calcitriol and FGF23 levels.[8–10]

Bottom Line: Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far.Newer disorders are being added as the mechanisms in this axis get discovered.This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Seth G. S. Medical College, Parel, Mumbai, India.

ABSTRACT
Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets. The other common forms are autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia. Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin. Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far. Newer disorders are being added as the mechanisms in this axis get discovered. This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization.

No MeSH data available.


Related in: MedlinePlus