Inherited disorders of calcium and phosphate metabolism.

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.

journal_name

Curr Opin Pediatr

authors

Gattineni J

doi

10.1097/MOP.0000000000000064

subject

Has Abstract

pub_date

2014-04-01 00:00:00

pages

215-22

issue

2

eissn

1040-8703

issn

1531-698X

journal_volume

26

pub_type

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