Inherited disorders of calcium and phosphate metabolism

Research output: Contribution to journalReview article

5 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)215-222
Number of pages8
JournalCurrent opinion in pediatrics
Volume26
Issue number2
DOIs
StatePublished - Apr 2014

    Fingerprint

Keywords

  • Fibroblast growth factor 23
  • Hyperparathyroidism
  • Hypoparathyroidism
  • Klotho

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this