Hyperphosphatemia
| Hyperphosphatemia | |
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| Phosphate group chemical structure | |
| ICD-9 | 275.3 |
| DiseasesDB | 20722 |
| eMedicine | med/1097 |
| MeSH | D054559 |
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Overview
Hyperphosphatemia is an electrolyte disturbance in which there is an abnormally elevated level of phosphate in the blood. Often, calcium levels are lowered (hypocalcemia) due to precipitation of phosphate with the calcium in tissues.
Differential diagnosis of causes
It can be caused by hypoparathyroidism due to the lack of PTH effect of inhibiting renal reabsorption of phosophate. It is also commonly seen in chronic renal failure.
Fibroblast growth factor 23 (FGF23) regulates NPT2a independent of parathyroid hormone (PTH) and serum 1,25-dihydroxyvitamin D level by controlling renal expressions of key enzymes of vitamin D metabolism.[1] Both NPT2a and NPT2c are regulated in a similar fashion by parathyroid hormone (PTH), FGF23, and dietary phosphate.[2]
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive metabolic disorder.[3] Its principal clinical features are represented by ectopic periarticular calcifications associated with elevated levels of serum phosphate.[3] HFTC has been shown to result from mutations in two genes: GALNT3 and FGF23.[4] The secretion of FGF23 requires O-glycosylation, which is selectively directed by GALNT3, to block processing of FGF23.[5]
Hyperphosphatemia-hyperostosis syndrome (HHS) is a rare autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and radiological evidence of cortical hyperostosis.[6] HHS is caused by mutations in GALNT3.[7] HHS and HFTC may be different manifestations of the same disorder.[7]
This can also be caused by taking oral sodium phosphate solutions prescribed for bowel preparation for colonoscopy in children.
Treatment
High phosphate levels can be avoided with phosphate binders and dietary restriction of phosphate.
Signs and symptoms
Signs and symptoms include ectopic calcification, secondary hyperparathyroidism, and renal osteodystrophy.
References
- ↑ Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S, Yamashita T (2004). "FGF-23 Is a Potent Regulator of Vitamin D Metabolism and Phosphate Homeostasis". J Bone Miner Res. 19 (3): 429–35. doi:10.1359/JBMR.0301264. PMID 15040831. Unknown parameter
|month=ignored (help) - ↑ Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (2006). "SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis". Am J Hum Genet. 78 (2): 179–92. PMID 16358214. Unknown parameter
|month=ignored (help) - ↑ 3.0 3.1 Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P (2007). "Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis". J Hum Genet. 52 (5): 464–8. PMID 17351710.
- ↑ Specktor P, Cooper JG, Indelman M, Sprecher E (2006). "Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred". J Hum Genet. 51 (5): 487–90. PMID 16528452.
- ↑ Kato K, Jeanneau C, Tarp MA, Benet-Pagès A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H (2006). "Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation". J Biol Chem. 281 (27): 18370–7. PMID 16638743. Unknown parameter
|month=ignored (help) - ↑ Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E (2005). "Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders". J Mol Med. 83 (1): 33–8. PMID 15599692. Unknown parameter
|month=ignored (help) - ↑ 7.0 7.1 Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ (2007). "Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations". J Clin Endocrinol Metab. 92 (5): 1943–7. PMID 17311862. Unknown parameter
|month=ignored (help)
External links
- Hyperphosphatemia and controlling phosphorus - phosphoruscontrol.com
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