Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.

Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. Research Abstract Details 

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Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. Abstract Text:

Takehisa Yamamoto,Toshimi Michigami,Fumito Aranami,Hiroko Segawa,Kousei Yoh,Shigeo Nakajima,Ken-ichi Miyamoto,Keiichi Ozono,Takehisa Yamamoto,Toshimi Michigami,Fumito Aranami,Hiroko Segawa,Kousei Yoh,Shigeo Nakajima,Ken-ichi Miyamoto,Keiichi Ozono,

Two cases of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) were reported in Japanese female siblings. Both of them manifested short stature and bowed legs, and biochemical examination revealed hypophosphatemia, phosphaturia, and hypercalciuria. The serum concentrations of 1,25-dihydroxyvitamin D (1,25(OH)(2)D) were elevated. In the oral phosphate loading test, serum phosphate levels were markedly increased in the HHRH patients, and the elevation was much higher than that in patients affected with X-linked hypophosphatemic rickets (XLH), suggesting the increased gastrointestinal absorption of phosphate in HHRH. Bone histology studies showed increased osteoid surface and width in HHRH, which was compatible with osteomalacia. In the HHRH patients, there were no hypomineralized periosteocytic lesions, which was a hallmark of XLH in bone histology. In one of the HHRH patients, phosphate administration alone almost completely cured the osteomalacia within a year, although pharmacological doses of 1,25(OH)(2)D(3) had little effect. In osteoblasts isolated from a HHRH patient, basal alkaline phosphatase (ALP) activities and osteocalcin syntheses by a physiological concentration of 1,25(OH)(2)D(3) were not stimulated by the increased medium phosphate concentrations from 0.5 to 4 mM. In contrast, these two parameters were stimulated by the increased medium phosphate concentrations both in normal and XLH osteoblasts, although the regulatory patterns of increased osteocalcin syntheses were different from normal to XLH osteoblasts; 2 and 4 mM of phosphate concentrations at least were necessary for normal and XLH osteoblasts, respectively. The gene analysis of phosphate transporter revealed a novel heterozygous mutation (R564C) in the exon of phosphate transporter NPT type IIc. These lines of evidence suggested that the pathogenesis of osteomalacia in HHRH was different from XLH in terms of the utility of phosphate in osteoblasts. These abnormalities were speculated to be associated with the abnormal functions of phosphate transporter gene type IIc, although the exact roles of this phosphate transporter in the human osteoblast are still unknown.

Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. Publishing Authors By Initials

T Yamamoto,T Michigami,F Aranami,H Segawa,K Yoh,S Nakajima,K Miyamoto,K Ozono,T Yamamoto,T Michigami,F Aranami,H Segawa,K Yoh,S Nakajima,K Miyamoto,K Ozono,

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Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Journal of bone and mineral metabolism

VOLUME: 25

Page Numbers: 407-13

Journal Abbreviation: J. Bone Miner. Metab.

ISSN: 0914-8779

DAY: 25

MONTH: 10

YEAR: 2007

Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. Information

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LANGUAGE: eng

NlmUniqueID: 9436705

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Grant and Affiliation Information for Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.

AFFILIATION: Department of Pediatrics, Minoh City Hospital, 5-7-1 Kayano, Minoh, Osaka 562-8562, Japan. takehisa_yamamoto@maple.city.minoh.lg.jp

Country: Japan

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MEDLINETA: J Bone Miner Metab

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