The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.
Genes (Basel)
; 12(5)2021 05 13.
Article
en En
| MEDLINE
| ID: mdl-34068220
ABSTRACT
Calcium (Ca) and Phosphorus (P) hold a leading part in many skeletal and extra-skeletal biological processes. Their tight normal range in serum mirrors their critical role in human well-being. The signalling "voyage" starts at Calcium Sensing Receptor (CaSR) localized on the surface of the parathyroid glands, which captures the "oscillations" of extracellular ionized Ca and transfers the signal downstream. Parathyroid hormone (PTH), Vitamin D, Fibroblast Growth Factor (FGF23) and other receptors or ion-transporters, work synergistically and establish a highly regulated signalling circuit between the bone, kidneys, and intestine to ensure the maintenance of Ca and P homeostasis. Any deviation from this well-orchestrated scheme may result in mild or severe pathologies expressed by biochemical and/or clinical features. Inherited disorders of Ca and P metabolism are rare. However, delayed diagnosis or misdiagnosis may cost patient's quality of life or even life expectancy. Unravelling the thread of the molecular pathways involving Ca and P signaling, we can better understand the link between genetic alterations and biochemical and/or clinical phenotypes and help in diagnosis and early therapeutic intervention.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Trastornos del Metabolismo del Fósforo
/
Trastornos del Metabolismo del Calcio
Límite:
Animals
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Humans
Idioma:
En
Año:
2021
Tipo del documento:
Article