Tags

Type your tag names separated by a space and hit enter

[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -].
Clin Calcium. 2007 Oct; 17(10):1592-9.CC

Abstract

Most patients with inherited hypophosphatemic Rickets/Osteomalacia have mutations in the PHEX gene. In this brief review, we focus on the treatment for patients with this mutation. First, molecular basis of inherited hypophosphatemic Rickets/Osteomalacia, followed by pathophysiology of PHEX and its related disorders is described. Next, clinical manifestation of patients with PHEX mutations and the principles of the treatment are explained. Finally, a case with this mutation that has been long followed up is presented. The most common treatment for this disorder is administration of phosphate and vitamin D, both internationally and in Japan. Degree of the increment in serum inorganic phosphorus levels one hour after phosphate administration, in addition to a decrease in alkaline phosphatase levels is valuable in the monitoring of the treatment. During childhood, markers in a longer term, namely, improvement of X-ray findings and that of height velocity are also useful.

Authors+Show Affiliations

Tokyo Metropolitan Kiyose Children's Hospital Endocrinology and Metabolism Division, Research Laboratory.No affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

jpn

PubMed ID

17906414

Citation

Hasegawa, Yukihiro, and Junko Miyamoto. "[Hypophosphatemic Rickets/osteomalacia. - Mainly On Patients With PHEX Mutations -]." Clinical Calcium, vol. 17, no. 10, 2007, pp. 1592-9.
Hasegawa Y, Miyamoto J. [Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -]. Clin Calcium. 2007;17(10):1592-9.
Hasegawa, Y., & Miyamoto, J. (2007). [Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -]. Clinical Calcium, 17(10), 1592-9.
Hasegawa Y, Miyamoto J. [Hypophosphatemic Rickets/osteomalacia. - Mainly On Patients With PHEX Mutations -]. Clin Calcium. 2007;17(10):1592-9. PubMed PMID: 17906414.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -]. AU - Hasegawa,Yukihiro, AU - Miyamoto,Junko, PY - 2007/10/2/pubmed PY - 2008/2/7/medline PY - 2007/10/2/entrez SP - 1592 EP - 9 JF - Clinical calcium JO - Clin Calcium VL - 17 IS - 10 N2 - Most patients with inherited hypophosphatemic Rickets/Osteomalacia have mutations in the PHEX gene. In this brief review, we focus on the treatment for patients with this mutation. First, molecular basis of inherited hypophosphatemic Rickets/Osteomalacia, followed by pathophysiology of PHEX and its related disorders is described. Next, clinical manifestation of patients with PHEX mutations and the principles of the treatment are explained. Finally, a case with this mutation that has been long followed up is presented. The most common treatment for this disorder is administration of phosphate and vitamin D, both internationally and in Japan. Degree of the increment in serum inorganic phosphorus levels one hour after phosphate administration, in addition to a decrease in alkaline phosphatase levels is valuable in the monitoring of the treatment. During childhood, markers in a longer term, namely, improvement of X-ray findings and that of height velocity are also useful. SN - 0917-5857 UR - https://www.unboundmedicine.com/medline/citation/17906414/[Hypophosphatemic_rickets/osteomalacia____Mainly_on_patients_with_PHEX_mutations__]_ L2 - http://www.diseaseinfosearch.org/result/6326 DB - PRIME DP - Unbound Medicine ER -