Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review-Reference-Cited by-同舟云学术

Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review

Published:2023-11-19 Issue:2 Volume:114 Page:137-146
ISSN:1432-0827
Container-title:Calcified Tissue International
language:en
Short-container-title:Calcif Tissue Int

Author:

Dodamani Manjunath Havalappa^ORCID,Memon Saba Samad^ORCID,Karlekar Manjiri^ORCID,Lila Anurag Ranjan^ORCID,Khan Mustafa^ORCID,Sarathi Vijaya^ORCID,Arya Sneha,Jamale Tukaram,Thakare Sayali,Patil Virendra A.,Shah Nalini S.,Bergwitz Clemens^ORCID,Bandgar Tushar R.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s00223-023-01156-2.pdf

Reference25 articles.

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2. Ichikawa S, Sorenson AH, Imel EA et al (2006) Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab 91:4022–4027. https://doi.org/10.1210/jc.2005-2840

3. Suda T, Takahashi N, Abe E (1992) Role of vitamin D in bone resorption. J Cell Biochem 49:53–58. https://doi.org/10.1002/jcb.240490110

4. Bergwitz C, Miyamoto K-I (2019) Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflugers Arch 471:149–163. https://doi.org/10.1007/s00424-018-2184-2

5. Gordon RJ, Li D, Doyle D et al (2020) Digenic heterozygous mutations in SLC34A3 and SLC34A1 cause dominant hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab 105:2392–2400. https://doi.org/10.1210/clinem/dgaa217

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