Genetic causes of hypophosphatemia.

Jose A Riancho, Nuria Puente, Pablo Solis

Journal: Minerva medica 2024;115(3):320-336

PMID: 38727708

Full Text on Minerva Medica View on PubMed

Abstract

Phosphate is a key component of mineralized tissues and is also part of many organic compounds. Phosphorus homeostasis depends especially upon intestinal absorption, and renal excretion, which are regulated by various hormones, such as PTH, 1,25-dihydroxyvitamin D, and fibroblast growth factor 23. In this review we provide an update of several genetic disorders that affect phosphate transporters through cell membranes or the phosphate-regulating hormones, and, consequently, result in hypophosphatemia.

Address: Service of Internal Medicine, Hospital U. M. Valdecilla, University of Cantabria, Santander, Spain.; Department of Medicine and Psychiatry, University of Cantabria, Santander, Spain.; Valdecilla Research Institute, Santander, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, ISCIII), Madrid, Spain.; Service of Internal Medicine, Hospital U. M. Valdecilla, University of Cantabria, Santander, Spain.; Service of Internal Medicine, Hospital U. M. Valdecilla, University of Cantabria, Santander, Spain - [email protected].; Department of Medicine and Psychiatry, University of Cantabria, Santander, Spain.; Valdecilla Research Institute, Santander, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, ISCIII), Madrid, Spain.

DOI: 10.23736/S0026-4806.24.09198-5

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MeSH Terms: Humans, Hypophosphatemia, Fibroblast Growth Factor-23, Fibroblast Growth Factors, Parathyroid Hormone, Phosphates, Vitamin D, Klotho Proteins, Phosphate Transport Proteins, PHEX Phosphate Regulating Neutral Endopeptidase, Intestinal Absorption, Glucuronidase, Phosphorus