Hypophosphatemic Rickets in Opsismodysplasia

Zeger, Martha Dechert; Adkins, Deanna; Fordham, Lynn Ansley; White, Kenneth E.; Schöenau, Eckhard; Rauch, Frank; Loechner, Karen J.

doi:10.1515/jpem.2007.20.1.79

Cited by 17 publications

(14 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…35 Opsismodysplasia, a rare hereditary spondylo(epi) chondrodysplasia, is also characterized by hypophosphatemia, abnormal vitamin D metabolism and elevated FGF-23 levels, but the disease-causing gene mutation has not been identified. 36 Elevated FGF-23 levels also cause acquired hypophosphatemic disorders, such as tumor-induced osteomalacia, and are an important adaptive response in CKD. 37 …”

Section: Mutations That Elevate Fgf-23 Levelsmentioning

confidence: 99%

Skeletal secretion of FGF-23 regulates phosphate and vitamin D metabolism

2012

View full text Add to dashboard Cite

The discovery of fibroblast growth factor 23 (FGF-23) has expanded our understanding of phosphate and vitamin D homeostasis and provided new insights into the pathogenesis of hereditary hypophosphatemic and hyperphosphatemic disorders, as well as acquired disorders of phosphate metabolism, such as chronic kidney disease. FGF-23 is secreted by osteoblasts and osteocytes in bone and principally targets the kidney to regulate the reabsorption of phosphate, the production and catabolism of 1,25-dihydroxyvitamin D and the expression of α-Klotho, an anti-ageing hormone. Secreted FGF-23 plays a central role in complex endocrine networks involving local bone-derived factors that regulate mineralization of extracellular matrix and systemic hormones involved in mineral metabolism. Inactivating mutations of PHEX, DMP1 and ENPP1, which cause hereditary hypophosphatemic disorders and primary defects in bone mineralization, stimulate FGF23 gene transcription in osteoblasts and osteocytes, at least in part, through canonical and intracrine FGF receptor pathways. These FGF-23 regulatory pathways may enable systemic phosphate and vitamin D homeostasis to be coordinated with bone mineralization. FGF-23 also functions as a counter-regulatory hormone for 1,25-dihydroxyvitamin D in a bone–kidney endocrine loop. FGF-23, through regulation of additional genes in the kidney and extrarenal tissues, probably has broader physiological functions beyond regulation of mineral metabolism that account for the association between FGF-23 and increased mortality and morbidity in chronic kidney disease.

show abstract

Section: Mutations That Elevate Fgf-23 Levelsmentioning

confidence: 99%

Skeletal secretion of FGF-23 regulates phosphate and vitamin D metabolism

2012

View full text Add to dashboard Cite

show abstract

“…2,3 The outcome is variable with lethality due to respiratory complications in many of them. 5,6,7 It is interesting to note severe polyhydramnios in the antenatal period, usually a feature of severe chondrodysplasias, was also seen here and required amnioreduction. Intelligence is usually normal.…”

Section: Discussionmentioning

confidence: 56%

Opsismodysplasia

et al. 2010

View full text Add to dashboard Cite

show abstract

“…So it was suggested that temporary hypophosphatemia occur possibly by pilates exercise. Prolonged hypophosphatemia can cause rickets [38], and it finally occurs osteomalacia even in normal serum Ca condition [39]. In addition, according to the report from Mehrotra et al .…”

Section: Discussionmentioning

confidence: 99%

The effects of a single bout pilates exercise on mRNA expression of bone metabolic cytokines in osteopenia women

Kim

2014

Journal of Exercise Nutrition and Biochemistry

View full text Add to dashboard Cite

[Purpose]The purpose of this study was to examine the effect of a single bout pilates exercise on mRNA expression of bone metabolic cytokines in elderly osteopenia women.[Methods]We selected 11 people of elderly osteopenia women and loaded a single bout pilates exercise about RPE 10-14 level. The blood samples were collected before, immediately after and 60 minute after pilates exercise, then examined calcium metabolic markers in serum and extracted peripheral blood mononuclear cell (PBMC) from whole blood and confirmed mRNA expression of bone metabolic cytokines from PBMC. To clarify the changes during exercise, we designed repeated measure ANOVA as the control group to perform blood sampling without exercise.[Results]As a result, serum P showed significant interaction effect between group and time (p<.001), the pilates exercise group decreased about 9% at immediately after exercise and 13% during recovery after exercise (p<.05), while the control group showed a tendency to increase. Serum CK also showed a significant interaction between group and time (p<.05), the pilates group significantly increased at immediately after exercise and during recovery after exercise (p<.05) but the control group didn’t have changes. TNF-α and IL-6 mRNA expression in PBMC was significantly increased in the pilates group (p<.01, p<.05), although INF-γ mRNA expression didn’t show statistically significant difference, it tended to increase in the pilates group (NS).[Conclusion]These results suggested that a single bout pilates exercise of elderly osteopenia women cause hypophosphatemia with temporary muscle damage, and it leading high turnover bone metabolic state with to activate both of bone formation and bone resorption.

show abstract

Hypophosphatemic Rickets in Opsismodysplasia

Abstract: We now demonstrate an association between opsismodysplasia, hypophosphatemic rickets, and FGF23 elevation. Screening phosphorus levels may thus uncover a potentially treatable component of this disease.

Cited by 17 publications

References 17 publications

Skeletal secretion of FGF-23 regulates phosphate and vitamin D metabolism

Skeletal secretion of FGF-23 regulates phosphate and vitamin D metabolism

Opsismodysplasia

The effects of a single bout pilates exercise on mRNA expression of bone metabolic cytokines in osteopenia women

Contact Info

Product

Resources

About