The disease specific module was launched January 2023 and is the work of the vertical theme on Rare hypophosphataemia.
This module covers the following diagnosis:
- X- linked hypophosphataemia ORPHA:89936
- Autosomal dominant hypophosphataemic rickets ORPHA:89937
- Autosomal recessive hypophosphataemic rickets ORPHA:289176
- Dominant hypophosphataemia with nephrolithiasis or osteoporosis ORPHA:244305
- Hereditary hypophosphataemic rickets with hypercalciuria ORPHA:157215
- Dent disease ORPHA:1652
Would you like to start using the module? Get access to the Core Registry here and read the instructions about how to use the module. After entering the patient in the Core Registry, the Rare Hypophosphataemia module appears automatically and is ready to use.
This module collects data on the diagnostic and care pathway of patients with these conditions. Additionally, the study group has recommended the yearly collection of the following PROMs (patient-reported outcome measures): EQ-5D, BPI-SF, MSK-QL, OHIP-14.
The module should be updated every 12 months in adults and every 6 months in children when patients are under active control. If not, updates should be provided every 3 years. Additional data can be entered any time.
The full data dictionary can be downloaded here when available.
Tools used in the module and other resources :
Calculation of the TmP/GFR to evaluate renal phosphate transport.
Do not forget: the generic outcomes (applicable to all conditions) EQ-5D and ICF should be assessed yearly for all bone and mineral conditions, either by the clinician or by patients with access to the platform.
If you have questions or interest in joining the study group, please contact us at registries@lumc.nl
Eurr-Bone 