Open AccessHypophosphatemic rickets
Author(s) -
Varsha S. Jagtap,
Vijaya Sarathi,
Anurag Lila,
Tushar Bandgar,
P. S. N. Me,
Nalini Shah
Publication year - 2012
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.93733
Subject(s) - hypophosphatemic rickets , rickets , osteomalacia , hypophosphatemia , medicine , phex , fibroblast growth factor 23 , endocrinology , etiology , vitamin d and neurology , calcium , parathyroid hormone
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.