Adult assessment

Clinical assessment

To monitor ongoing, active disease, clinical assessment of weight, mobility, and pain should be conducted every year.1

Radiographic, renal, and biochemical monitoring can be used.


Radiographic assessment can help confirm insufficiency fractures and enthesopathies.2


Renal ultrasound should be conducted every other year.1


Blood assessment of ALP, total calcium, PTH, and creatinine should be evaluated every year. Urine assessment of calciuria should be measured every 6 months.1

Physical function & mobility

Use tools like the 6-minute walk test to regularly assess changes in mobility and physical function.

Continual monitoring of adult patients

As with paediatric patients, regular monitoring is recommended to avoid hypercalcaemia, hypercalciuria, nephrocalcinosis, and hyperparathyroidism.1

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1. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-R30. 2. Ruppe MD. X-linked hypophosphatemia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. Gene Reviews. Accessed October 20, 2017. 3. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. 4. Penido MG, Alon US. Phosphate homeostasis and its role in bone health. Pediatr Nephrol. 2012;27(11):2039-2048. 5. Beck-Nielsen SS, Brusgaard K, Rasmussen LM, et al. Phenotype presentation of hypophosphatemic rickets in adults. Calcif Tissue Int. 2010;87(2):108-119. 6. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphataemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334. 7. Looser zones. Radiopaedia website. Accessed October 9, 2017. 8. Pseudoarthrosis (differential). Radiopaedia website. Accessed September 20, 2019. 9. Pal R, Bhansali A. X-linked hypophosphatemia with enthesopathy. BMJ Case Rep. 2017;1-2. 10. Karaplis AC, Bai X, Falet J-P, Macica CM. Mineralizing enthesopathy is a common feature of renal phosphate-wasting disorders attributed to FGF23 and is exacerbated by standard therapy in hyp mice. Endocrinology. 2012;153(12):5906-5917. 11. Opsahl Vital S, Gaucher C, Bardet C, et al. Tooth dentin defects reflect genetic disorders affecting bone mineralisation. Bone. 2012;50(4):989-997. 12. Carpenter TO. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am. 1997;44(2):443-466. 13. Teeth. Human Anatomy. WebMD Medical Encyclopedia. WebMD, LLC. 2015. Accessed December 9, 2017. 14. 6-Minute Walk Test. American Thoracic Society Web site. Accessed November 16, 2017. 15. Che H, Roux C, Etcheto A, et al. Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. Eur J Endocrinol. 2016;174(3):325-333. 16. Payne RB. Renal tubular reabsorption of phosphate (TmP/GFR): indications and interpretation. Ann Clin Biochem. 1998;35(pt. 2):201-206. 17. Santos F, Fuente R, Mejia N, Mantecon L, Gil-Peña H, Ordoñez FA. Hypophosphatemia and growth. Pediatr Nephrol. 2013;28(4):595-603. 18. Goldsweig BK, Carpenter TO. Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. Curr Osteoporos Rep. 2015;13(2):88-97. 19. Imel EA, Zhang X, Ruppe MD, et al. Prolonged correction of serum phosphorus in adults with X-linked hypophosphatemia using monthly doses of KRN23. J Clin Endocrinol Metab. 2015;100(7):2565-2573. 20. Özkan B. Nutritional rickets. J Clin Res Pediatr Endocrinol. 2010;2(4):137-143. 21. Nield LS, Mahajan P, Joshi A, Kamat D. Rickets: not a disease of the past. Am Fam Physician. 2006;74(4):619-626. 22. Haffner D, Emma F, Eastwood DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15(7):435-455.
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