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Kidney Week

Abstract: TH-PO823

Hypophosphatemia Linked to Chromosome X (XLH): Impact on the Quality of Life

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Broseta Monzo, Jose Jesus, Hospital Clínic de Barcelona, Barcelona, Spain
  • Lopez Romero, Luis Carlos, Hospital Universitari i Politecnic La Fe, Valencia, Spain
  • Guillen, Elena, Hospital Clínic de Barcelona, Barcelona, Spain
  • Gómez, Aina, Hospital Universitari i Politecnic La Fe, Valencia, Spain
  • Jaras, Julio Hernández, Hospital Universitari i Politecnic La Fe, Valencia, Spain

XLH is a rare disease, with dominant inheritance and where the genetic basis is the mutation of the PHEX gene, located in the short arm of chromosome 22. This gene codes for an endendendopeptidase, homologous named, which causes the overproduction of FGF- 23, a counterregulatory hormone of phosphate reabsorption by the sodium/phosphate cotransporters in the renal tubule, as well as increasing catabolism and decreasing the synthesis of the active form of vitamin D.

The disease has a wide phenotypic variability and different studies have shown a significant impact on the quality of life (QoL) of these patients with reduced mobility and functional disability.

A human anti-FGF-23 monoclonal antibody, burosumab, approved in the USA and Europe for the treatment of XLH, corrects the underlying pathophysiology of the disease. It has shown impressive efficacy in children and its study in symptomatic adults with this disease is under study.

The objective of this study is to know the impact on the quality of life of a series of patients affected by XLH.


Longitudinal study with retrospective data collection of a series of patients affected by XLH who were in follow-up in the Department of Nephrology of the Hospital Universitari i Politècnic La Fe (Valencia). Data on the impact of the disease has been collected through a QoL test (EQ-5D-5L), and clinical and radiological variables were collected from the time of diagnosis until 2019.


Data were collected from 18 patients, 38% males of 21.64 ± 11.61 years, of which all had osteomalacia or rickets of some degree, 94.4% short stature, 44% some type of affectation joint 16.6%, enthesopathies, 5.5% stenosis of the medullary canal and none craniosynostosis.

Regarding the QoL, 75% referred problems for walking, 50% reported problems to perform their daily activities, 25% even for their own self-care, 50% referred anxiety or depression and 75%, pain. Their average score with respect to their state of health was 63.75 ± 22.86 out of 100.


XLH is a disease with different musculoskeletal manifestations that condition an important impact on the quality of life of patients in both physical and psychological aspects. That is why the appearance of burosumab as a new therapeutic strategy that blocks the physiopathological mechanism of the disease will change this paradigm.