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Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S. Baroncelli GI, et al. Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. Curr Opin Endocrinol Diabetes Obes. 2012. PMID: 23108197 Review.
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 hypo …
Inactivating mutations of phosphate-regulating gene with homologies to endopeptidases on the X chromosome, dentin matrix acidic phosphoprote …
Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.
Mameli C, Sangiorgio A, Colombo V, Gambino M, Spaccini L, Cattaneo E, Zuccotti GV. Mameli C, et al. Int J Environ Res Public Health. 2021 Aug 19;18(16):8771. doi: 10.3390/ijerph18168771. Int J Environ Res Public Health. 2021. PMID: 34444516 Free PMC article. Review.
Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ...
Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutati …
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.
Goldsweig BK, Carpenter TO. Goldsweig BK, et al. Curr Osteoporos Rep. 2015 Apr;13(2):88-97. doi: 10.1007/s11914-015-0259-y. Curr Osteoporos Rep. 2015. PMID: 25620749 Review.
We describe the genetic, pathophysiologic, and clinical aspects of this group of disorders with a focus on X-linked hypophosphatemia (XLH), the best characterized of these abnormalities. We also discuss autosomal dominant hypophosphatemic rickets (ADHR …
We describe the genetic, pathophysiologic, and clinical aspects of this group of disorders with a focus on X-linked hypophosphatemia (XLH), …
Hypophosphatemic rickets and craniosynostosis: a multicenter case series.
Vega RA, Opalak C, Harshbarger RJ, Fearon JA, Ritter AM, Collins JJ, Rhodes JL. Vega RA, et al. J Neurosurg Pediatr. 2016 Jun;17(6):694-700. doi: 10.3171/2015.10.PEDS15273. Epub 2016 Jan 29. J Neurosurg Pediatr. 2016. PMID: 26824597
The most commonly affected suture was the sagittal (6/10 patients). Etiologies included antacid-induced rickets, autosomal dominant hypophosphatemic rickets, and X-linked hypophosphatemic (XLH) rickets. ...
The most commonly affected suture was the sagittal (6/10 patients). Etiologies included antacid-induced rickets, autosomal dominan …
Iron deficiency plays essential roles in the trigger, treatment, and prognosis of autosomal dominant hypophosphatemic rickets.
Liu C, Li X, Zhao Z, Chi Y, Cui L, Zhang Q, Ping F, Chai X, Jiang Y, Wang O, Li M, Xing X, Xia W. Liu C, et al. Osteoporos Int. 2021 Apr;32(4):737-745. doi: 10.1007/s00198-020-05649-w. Epub 2020 Sep 30. Osteoporos Int. 2021. PMID: 32995940
Meanwhile, patients' serum phosphate showed positive correlations with iron metabolism parameters and hemoglobin-related parameters, suggesting the necessity of monitoring and correcting the iron status in ADHR. INTRODUCTION: Autosomal dominant hypophosphatemic …
Meanwhile, patients' serum phosphate showed positive correlations with iron metabolism parameters and hemoglobin-related parameters, suggest …
FGF23 and syndromes of abnormal renal phosphate handling.
Bergwitz C, Jüppner H. Bergwitz C, et al. Adv Exp Med Biol. 2012;728:41-64. doi: 10.1007/978-1-4614-0887-1_3. Adv Exp Med Biol. 2012. PMID: 22396161 Free PMC article. Review.
FGF23 was discovered as the humoral factor in tumors that causes hypophosphatemia and osteomalacia and through the identification of a mutant form of FGF23 that leads to autosomal dominant hypophosphatemic rickets (ADHR), a rare genetic disorder. ...
FGF23 was discovered as the humoral factor in tumors that causes hypophosphatemia and osteomalacia and through the identification of a mutan …
Renal phosphate--wasting disorders in childhood.
Ward LM. Ward LM. Pediatr Endocrinol Rev. 2005 Feb;2 Suppl 3:342-50. Pediatr Endocrinol Rev. 2005. PMID: 16456503 Review.
The purpose of this review paper is to provide a summary of recent developments in the childhood disorders of renal phosphate-wasting, with particular emphasis on two of the hereditary conditions, X-linked hypophosphatemia (XLH) and autosomal dominant hypophospha …
The purpose of this review paper is to provide a summary of recent developments in the childhood disorders of renal phosphate-wasting, with …
Acquired Forms of Fibroblast Growth Factor 23-Related Hypophosphatemic Osteomalacia.
Ito N, Hidaka N, Kato H. Ito N, et al. Endocrinol Metab (Seoul). 2024 Apr;39(2):255-261. doi: 10.3803/EnM.2023.1908. Epub 2024 Mar 11. Endocrinol Metab (Seoul). 2024. PMID: 38467164 Free PMC article. Review.
Fibroblast growth factor 23 (FGF23) is a pivotal humoral factor for the regulation of serum phosphate levels and was first identified in patients with autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia (TIO), the most common for …
Fibroblast growth factor 23 (FGF23) is a pivotal humoral factor for the regulation of serum phosphate levels and was first identified in pat …
Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23.
White KE, Carn G, Lorenz-Depiereux B, Benet-Pages A, Strom TM, Econs MJ. White KE, et al. Kidney Int. 2001 Dec;60(6):2079-86. doi: 10.1046/j.1523-1755.2001.00064.x. Kidney Int. 2001. PMID: 11737582 Free article.
BACKGROUND: The gene for the renal phosphate wasting disorder autosomal-dominant hypophosphatemic rickets (ADHR) is FGF23, which encodes a secreted protein related to the fibroblast growth factors (FGFs). ...
BACKGROUND: The gene for the renal phosphate wasting disorder autosomal-dominant hypophosphatemic rickets (ADHR) …
A clinical and molecular genetic study of hypophosphatemic rickets in children.
Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI, Choi Y. Cho HY, et al. Pediatr Res. 2005 Aug;58(2):329-33. doi: 10.1203/01.PDR.0000169983.40758.7B. Epub 2005 Jul 31. Pediatr Res. 2005. PMID: 16055933
X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets, hereditary hypophosphatemic rickets with hypercalciuria, and tumor-induced osteomalacia share clinical and biochemical features, and are collectively referred to as h …
X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets, hereditary hypophosphatemi …
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