title: Inherited disorders of calcium and phosphate metabolism.
abstract: OBJECTIVE
  Inherited disorders of calcium and phosphate homeostasis have variable presentation and can cause significant morbidity. An understanding of the mode of inheritance and pathophysiology of these conditions will help in the diagnosis and early institution of therapy.
  
  
  RESULTS
  Identification of genetic mutations in humans and animal models has advanced our understanding of many inherited disorders of calcium and phosphate regulation. Identification of mutations of calcium-sensing receptor has improved our understanding of hypocalcemic and hypercalcemic conditions. Mutations of Fgf23, Klotho and phosphate transporter genes have been identified to cause disorders of phosphate metabolism.
  
  
  CONCLUSIONS
  Calcium and phosphate homeostasis is tightly regulated in a narrow range due to their vital role in many biological processes. Inherited disorders of calcium and phosphate metabolism though uncommon can have severe morbidity. Genetic counseling of the affected families is an important part of the follow-up of these patients.
authors.affiliation: Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA.
authors.forename: Jyothsna
authors.initials: J
authors.lastname: Gattineni
mesh_terms: D001851:Bone Diseases, Metabolic / Q000235:genetics*; D002118:Calcium / Q000378:metabolism*; D002675:Child, Preschool; D004198:Disease Susceptibility; D042241:Early Diagnosis; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000235:genetics / Q000378:metabolism*; D005817:Genetic Counseling; D005966:Glucuronidase / Q000235:genetics / Q000378:metabolism*; D006706:Homeostasis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D000090265:Klotho Proteins; D010710:Phosphates / Q000378:metabolism*; D044169:Receptors, Calcium-Sensing / Q000378:metabolism; D014808:Vitamin D Deficiency / Q000150:complications / Q000235:genetics / Q000378:metabolism*
chemical_list: C000717427:FGF23 protein, human; D010710:Phosphates; D044169:Receptors, Calcium-Sensing; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23; D005966:Glucuronidase; D000090265:Klotho Proteins; D002118:Calcium