Alagille Syndrome
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Genetic and Congenital

X-linked Hypophosphatemia Impacts Physical, Psychological Aspects of Quality of Life

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A study published in the Kidney Week 2019 Supplement looked at the impact X-linked hypophosphatemia (XLH) had on quality of life.

XLH is characterized by low levels of phosphate in the blood. Patients often experience reduced mobility and functional disability.

This longitudinal study utilized retrospective data from patients with XLH at one institution. Quality of life questionnaires (EQ-5D-5L) and clinical and radiological variables data from the time of diagnosis until 2019 were collected from 18 patients (38% males of 21.64 ± 11.61 years). All patients 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.

In the quality of life questionnaire, patients reported problems walking (75%), problems preforming their daily activities (50%), and problems with self-care (25%). In addition, 50% reported anxiety or depression and 75% reported pain. Their average score with respect to their state of health was 63.75 ± 22.86 out of 100.


Broseta Monzo JJ, Lopez Romero LC, Guillen E, et al. Hypophosphatemia linked to chromosome X (XLH): impact on the quality of life. J Am Soc Nephrol 30. 2019; Kidney Week 2019 Supplement.

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