Inherited disorders of calcium and phosphate metabolism.
Curr Opin Pediatr
; 26(2): 215-22, 2014 Apr.
Article
em En
| MEDLINE
| ID: mdl-24553630
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fosfatos
/
Deficiência de Vitamina D
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Doenças Ósseas Metabólicas
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Cálcio
/
Fatores de Crescimento de Fibroblastos
/
Glucuronidase
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
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Screening_studies
Limite:
Child, preschool
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Humans
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Infant
/
Newborn
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article