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Inherited disorders of calcium and phosphate metabolism

Gattineni, Jyothsna

Current Opinion in Pediatrics: April 2014 - Volume 26 - Issue 2 - p 215–222
doi: 10.1097/MOP.0000000000000064
NEPHROLOGY: Edited by Michel Baum

Purpose of review 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.

Recent findings 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.

Summary 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.

Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA

Correspondence to Jyothsna Gattineni, MD, Department of Pediatrics, U.T. Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390 9063, USA. Tel: +1 214 648-3438; fax: +1 214 648-2034; e-mail:

© 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins