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Page 1
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A. Haffner D, et al. Nat Rev Nephrol. 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. Nat Rev Nephrol. 2019. PMID: 31068690 Free PMC article.
In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. ...In this article, we summarize t …
In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in associat …
FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment.
Fukumoto S. Fukumoto S. J Mol Endocrinol. 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. J Mol Endocrinol. 2021. PMID: 33295878 Review.
FGF23 reduces serum phosphate by suppressing proximal tubular phosphate reabsorption and intestinal phosphate absorption. After the identification of FGF23, several kinds of hypophosphatemic rickets/osteomalacia such as X-linked hypophosphatemia (XLH) and tumor-indu …
FGF23 reduces serum phosphate by suppressing proximal tubular phosphate reabsorption and intestinal phosphate absorption. After the identifi …
X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.
Baroncelli GI, Mora S. Baroncelli GI, et al. Front Endocrinol (Lausanne). 2021 Aug 6;12:688309. doi: 10.3389/fendo.2021.688309. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34421819 Free PMC article. Review.
X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. ...However, conventional treatment does not improve phosphate metabolism and it shows poor and slow effects in improving rickets lesions and linear growth. Recently, so …
X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. ...However, conventional treatment …
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J. Laurent MR, et al. Front Endocrinol (Lausanne). 2021 Mar 19;12:641543. doi: 10.3389/fendo.2021.641543. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 33815294 Free PMC article. Review.
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting …
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, …
Rickets guidance: part II-management.
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D. Haffner D, et al. Pediatr Nephrol. 2022 Oct;37(10):2289-2302. doi: 10.1007/s00467-022-05505-5. Epub 2022 Mar 29. Pediatr Nephrol. 2022. PMID: 35352187 Free PMC article.
Here, we discuss the management of different forms of rickets, including new therapeutic approaches based on recent guidelines. ...Finally, forms of hypophosphatemic rickets caused by Fanconi syndrome, such as nephropathic cystinosis and Dent disease r …
Here, we discuss the management of different forms of rickets, including new therapeutic approaches based on recent guidelines …
Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.
Trombetti A, Al-Daghri N, Brandi ML, Cannata-Andía JB, Cavalier E, Chandran M, Chaussain C, Cipullo L, Cooper C, Haffner D, Harvengt P, Harvey NC, Javaid MK, Jiwa F, Kanis JA, Laslop A, Laurent MR, Linglart A, Marques A, Mindler GT, Minisola S, Yerro MCP, Rosa MM, Seefried L, Vlaskovska M, Zanchetta MB, Rizzoli R. Trombetti A, et al. Nat Rev Endocrinol. 2022 Jun;18(6):366-384. doi: 10.1038/s41574-022-00662-x. Epub 2022 Apr 28. Nat Rev Endocrinol. 2022. PMID: 35484227 Review.
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23). ...The continuation of conventional treatment in sympto …
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associat …
Pharmacological management of X-linked hypophosphataemia.
Imel EA, White KE. Imel EA, et al. Br J Clin Pharmacol. 2019 Jun;85(6):1188-1198. doi: 10.1111/bcp.13763. Epub 2018 Oct 29. Br J Clin Pharmacol. 2019. PMID: 30207609 Free PMC article. Review.
Although the exact molecular mechanisms by which PHEX mutations cause disturbed phosphate handling in XLH remain unknown, focus for novel therapies has more recently been based upon the finding that the bone-produced phosphaturic hormone fibroblast growth factor-23 is elev …
Although the exact molecular mechanisms by which PHEX mutations cause disturbed phosphate handling in XLH remain unknown, focus for novel …
Management of X-linked hypophosphatemia in adults.
Lecoq AL, Brandi ML, Linglart A, Kamenický P. Lecoq AL, et al. Metabolism. 2020 Feb;103S:154049. doi: 10.1016/j.metabol.2019.154049. Epub 2019 Dec 18. Metabolism. 2020. PMID: 31863781 Review.
X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene which result in Fibroblast Growth Factor-23 (FG-F23) excess and phosphate wasting. Clinically, XLH children present with rickets, bone deformities and short stature. In adulthood, patients may still be …
X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene which result in Fibroblast Growth Factor-23 (FG-F23) excess and phos …
Usefulness of X-rays in the Differential Diagnosis of Hypophosphataemic Rickets.
Martel-Villagrán J, Arias-Medina A, García-Mardones G. Martel-Villagrán J, et al. Adv Ther. 2020 May;37(Suppl 2):89-94. doi: 10.1007/s12325-019-01183-2. Epub 2020 Mar 31. Adv Ther. 2020. PMID: 32236877 Review.
Rickets and osteomalacia are two related conditions linked by the lack of mineralization of bone tissue due to a disturbance of calcium and phosphate homeostasis. ...The aim of this article is to show the main radiological findings that can be found in rickets and h …
Rickets and osteomalacia are two related conditions linked by the lack of mineralization of bone tissue due to a disturbance of calci …
Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives.
Seefried L, Duplan MB, Briot K, Collins MT, Evans R, Florenzano P, Hawkins N, Javaid MK, Lachmann R, Ward LM. Seefried L, et al. Front Endocrinol (Lausanne). 2023 Jul 20;14:1211426. doi: 10.3389/fendo.2023.1211426. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37547321 Free PMC article.
Two treatment options exist: oral phosphate in combination with active vitamin D ("conventional therapy") and a fully human monoclonal anti-FGF23 antibody, burosumab. The clinical benefit of conventional therapy in adults is limited, and poor tolerance and complicat …
Two treatment options exist: oral phosphate in combination with active vitamin D ("conventional therapy") and a fully human monoclona …
88 results