ESPN 53rd Annual Meeting

ESPN 2021


 
Development of an Observational Registry For Genetic Hypophosphatemia And Acquired Renal Phosphate Wasting in The Netherlands: ORPHOS-NED
A. BOSMAN 1 N. M. APPELMAN-DIJKSTRA 2 J. P. VAN DEN BERGH 3 A. BĂ–KENKAMP 4 A. M. BOOT 5 M. H. DE BORST 6 B. C. J. VAN DER EERDEN 1 M. C. ZILLIKENS 1

1- ERASMUS MC, UNIVERSITY MEDICAL CENTER ROTTERDAM, DEPARTMENT OF INTERNAL MEDICINE, ERASMUS MC BONE CENTER
2- LEIDEN UNIVERSITY MEDICAL CENTER, LEIDEN, DEPARTMENT OF INTERNAL MEDICINE, DIVISION ENDOCRINOLOGY, CENTER FOR BONE QUALITY
3- VIECURI MEDICAL CENTRE, VENLO, DEPARTMENT OF INTERNAL MEDICINE
4- EMMA CHILDREN’S HOSPITAL, AMSTERDAM UNIVERSITY MEDICAL CENTER, VRIJE UNIVERSITEIT, DEPARTMENT OF PEDIATRIC NEPHROLOGY
5- UNIVERSITY MEDICAL CENTER GRONINGEN, GRONINGEN, DEPARTMENT OF PEDIATRICS
6- UNIVERSITY MEDICAL CENTER GRONINGEN, GRONINGEN, DEPARTMENT OF INTERNAL MEDICINE
 
Abstract:

Background: Phosphate is critical for skeletal development and mineral metabolism. Phosphate deficiency leads to e.g. muscle weakness and rickets or osteomalacia. Several inherited and acquired causes of renal phosphate wasting can lead to hypophosphatemic rickets (HR). X-linked hypophosphatemia (XLH) is the most common form of HR with an estimated prevalence of 1:20.000.The prevalence of chronic hypophosphatemia in the Netherlands and the clinical manifestations are currently unknown.

Purpose: ORPHOS-NED has been developed to identify and evaluate patients with XLH and other forms of chronic hypophosphatemia within a registry in the Netherlands.

Methods: ORPHOS-NED is a web-based registry that has been set up by a group of medical specialists, who are affiliated to the Dutch Federation of Nephrology (NFN) and the Bone Network of the Dutch Society of Endocrinology (NVE). Dutch endocrinologist and nephrologists are approached for eligible patients. Children and adults with chronic hypophosphatemia are considered for inclusion. After informed consent, a chart review is performed to collect data on several aspects of the disease: initial presentation; symptoms; radiological, genetic and laboratory examinations; treatment; and follow up. Furthermore, questionnaires are sent out to assess health-related quality of life including the Brief Fatigue Inventory, the Brief Pain Inventory, RAND36, the Health Assessment Questionnaire and the Pediatric Outcomes Data Collection Instrument.  

Results: Currently, 107 pediatric and adult patients from 4 academic hospitals have been included in this registry. Inclusion of patients is ongoing. The data from this registry will lead to more insight in the prevalence, natural history, treatment and its effects on HR, quality of life, and into genotype-phenotype relations in the different genetic forms.

Conclusion: A Dutch nationwide registry is being set up for genetic and acquired forms of chronic hypophosphatemia, which will lead to improved insight in prevalence, causes, disease manifestations and therapy.