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2014 ; 26
(2
): 215-22
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Inherited disorders of calcium and phosphate metabolism
#MMPMID24553630
Gattineni J
Curr Opin Pediatr
2014[Apr]; 26
(2
): 215-22
PMID24553630
show ga
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.
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