Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia | Zendy

Luiz F. Onuchic | Zendy; Bruno FerrazdeSouza | Zendy; Berenice B. Mendonça | Zendy; Pedro Henrique Silveira Corrêa | Zendy; Regina Matsunaga Martin | Zendy

Open Access

Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia

Author(s) -

Luiz F. Onuchic,

Bruno FerrazdeSouza,

Berenice B. Mendonça,

Pedro Henrique Silveira Corrêa,

Regina Matsunaga Martin

Publication year - 2012

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-3082

Subject(s) - hypercalciuria , medicine , fibroblast growth factor 23 , endocrinology , gastroenterology , calcium , parathyroid hormone

Jansen's metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant disorder caused by activating mutations in the PTH 1 receptor (PTH1R; PTH/PTHrP receptor), leading to chronic hypercalcemia and hypercalciuria. Hypophosphatemia is also a hallmark of JMC, and recently, increased fibroblast growth factor 23 (FGF23) levels have been reported in this syndrome. Hypercalcemia has been associated with increased cardiovascular risk; however, cardiovascular disease has not been extensively investigated in JMC patients.

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