Genetic disorders of phosphate regulation

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Regulation of phosphate homeostasis is critical for many biological processes, and both hypophosphatemia and hyperphosphatemia can have adverse clinical consequences. Only a very small percentage (1%) of total body phosphate is present in the extracellular fluid, which is measured by routine laboratory assays and does not reflect total body phosphate stores. Phosphate is absorbed from the gastrointestinal tract via the transcellular route [sodium phosphate cotransporter 2b (NaPi2b)] and across the paracellular pathway. Approximately 85% of the filtered phosphate is reabsorbed from the kidney, predominantly in the proximal tubule, by NaPi2a and NaPi2c, which are present on the brush border membrane. Renal phosphate transport is tightly regulated. Dietary phosphate intake, parathyroid hormone (PTH), 1,25 (OH)2 vitamin D3, and fibroblast growth factor 23 (FGF23) are the principal regulators of phosphate reabsorption from the kidney. Recent advances in genetic techniques and animal models have identified many genetic disorders of phosphate homeostasis. Mutations in NaPi2a and NaPi2c; and hormonal dysregulation of PTH, FGF23, and Klotho, are primarily responsible for most genetic disorders of phosphate transport. The main focus of this educational review article is to discuss the genetic and clinical features of phosphate regulation disorders and provide understanding and treatment options.

Original languageEnglish (US)
Pages (from-to)1477-1487
Number of pages11
JournalPediatric Nephrology
Volume27
Issue number9
DOIs
StatePublished - Sep 2012

Fingerprint

Inborn Genetic Diseases
Phosphates
Parathyroid Hormone
Kidney
Homeostasis
Sodium-Phosphate Cotransporter Proteins
Hyperphosphatemia
Hypophosphatemia
Biological Phenomena
Genetic Techniques
Cholecalciferol
Genetic Models
Extracellular Fluid
Microvilli
Gastrointestinal Tract
Animal Models

Keywords

  • Hyperphosphatemia
  • Hypophosphatemia

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

Genetic disorders of phosphate regulation. / Gattineni, Jyothsna; Baum, Michel.

In: Pediatric Nephrology, Vol. 27, No. 9, 09.2012, p. 1477-1487.

Research output: Contribution to journalArticle

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