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Hypophosphatemic rickets.
Curr Opin Endocrinol Diabetes Obes. 2012 Dec; 19(6):460-7.CO

Abstract

PURPOSE OF REVIEW

Description of the recent advances on the regulation of phosphate metabolism, gene mutations, and new approaches to treatment in patients with hypophosphatemic rickets.

RECENT FINDINGS

Fibroblast growth factor 23 (FGF23) overproduction may be a primary cause of hypophosphatemic rickets. Inactivating mutations of phosphate-regulating gene with homologies to endopeptidases on the X chromosome, dentin matrix acidic phosphoprotein 1, and ectonucleotide pyrophosphatase/phosphodiesterase 1 are associated with X-linked hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets 1, and autosomal recessive hypophosphatemic rickets 2, respectively. Activating mutations of FGF23 gene is the cause of autosomal dominant hypophosphatemic rickets. Iron deficiency may affect autosomal dominant hypophosphatemic rickets phenotype by regulating FGF23 production.Current treatment with activated vitamin D metabolites and oral inorganic phosphate salts may partially correct skeletal lesions and linear growth in patients with hypophosphatemic rickets. However, some patients have poor improvement by the current treatment.

SUMMARY

Identification of the causative mutation in patients with hypophosphatemic rickets may be useful to confirm the diagnosis and probably for prognosis. Inhibition of FGF23 overproduction by anti-FGF23 neutralizing antibodies could be a future approach for treatment of patients with FGF23-dependent hypophosphatemic rickets.

Authors+Show Affiliations

Pediatric Unit I, Department of Obstetrics, Gynecology and Pediatrics, University-Hospital, Pisa, Italy. g.baroncelli@med.unipi.itNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

23108197

Citation

Baroncelli, Giampiero I., et al. "Hypophosphatemic Rickets." Current Opinion in Endocrinology, Diabetes, and Obesity, vol. 19, no. 6, 2012, pp. 460-7.
Baroncelli GI, Toschi B, Bertelloni S. Hypophosphatemic rickets. Curr Opin Endocrinol Diabetes Obes. 2012;19(6):460-7.
Baroncelli, G. I., Toschi, B., & Bertelloni, S. (2012). Hypophosphatemic rickets. Current Opinion in Endocrinology, Diabetes, and Obesity, 19(6), 460-7. https://doi.org/10.1097/MED.0b013e328358be97
Baroncelli GI, Toschi B, Bertelloni S. Hypophosphatemic Rickets. Curr Opin Endocrinol Diabetes Obes. 2012;19(6):460-7. PubMed PMID: 23108197.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hypophosphatemic rickets. AU - Baroncelli,Giampiero I, AU - Toschi,Benedetta, AU - Bertelloni,Silvano, PY - 2012/10/31/entrez PY - 2012/10/31/pubmed PY - 2013/5/1/medline SP - 460 EP - 7 JF - Current opinion in endocrinology, diabetes, and obesity JO - Curr Opin Endocrinol Diabetes Obes VL - 19 IS - 6 N2 - PURPOSE OF REVIEW: Description of the recent advances on the regulation of phosphate metabolism, gene mutations, and new approaches to treatment in patients with hypophosphatemic rickets. RECENT FINDINGS: Fibroblast growth factor 23 (FGF23) overproduction may be a primary cause of hypophosphatemic rickets. Inactivating mutations of phosphate-regulating gene with homologies to endopeptidases on the X chromosome, dentin matrix acidic phosphoprotein 1, and ectonucleotide pyrophosphatase/phosphodiesterase 1 are associated with X-linked hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets 1, and autosomal recessive hypophosphatemic rickets 2, respectively. Activating mutations of FGF23 gene is the cause of autosomal dominant hypophosphatemic rickets. Iron deficiency may affect autosomal dominant hypophosphatemic rickets phenotype by regulating FGF23 production.Current treatment with activated vitamin D metabolites and oral inorganic phosphate salts may partially correct skeletal lesions and linear growth in patients with hypophosphatemic rickets. However, some patients have poor improvement by the current treatment. SUMMARY: Identification of the causative mutation in patients with hypophosphatemic rickets may be useful to confirm the diagnosis and probably for prognosis. Inhibition of FGF23 overproduction by anti-FGF23 neutralizing antibodies could be a future approach for treatment of patients with FGF23-dependent hypophosphatemic rickets. SN - 1752-2978 UR - https://www.unboundmedicine.com/medline/citation/23108197/Hypophosphatemic_rickets_ L2 - https://doi.org/10.1097/MED.0b013e328358be97 DB - PRIME DP - Unbound Medicine ER -