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Hypophosphatemic Rickets.
Martin Bitzan1, Paul R Goodyer2
1Department of Pediatrics, The Montreal Children's Hospital, McGill University Health Centre, 1001 Boulevard Décarie, Room B RC.6164, Montreal, Quebec H4A 3J1, Canada.
Pediatric Clinics of North America
|November 21, 2018
Summary
X-linked hypophosphatemia (XLH) presents treatment challenges affecting bone and growth. New therapies targeting FGF23 offer promise but require long-term comparison with conventional phosphate and calcitriol treatments.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Bone Diseases
Background:
- Hypophosphatemic rickets, primarily X-linked dominant (XLH), stems from PHEX gene variants.
- XLH causes significant growth, bone, dental, and kidney complications.
- Current treatment involves phosphate (PO4) and calcitriol, needing adverse effect monitoring.
Purpose of the Study:
- To review the therapeutic landscape for hypophosphatemic rickets.
- To discuss the role of FGF23 in diagnosis and monitoring.
- To evaluate emerging treatments against conventional therapies.
Main Methods:
- Literature review of hypophosphatemic rickets treatments.
- Analysis of conventional PO4 and calcitriol therapy.
- Assessment of novel agents targeting FGF23 signaling.
Main Results:
- Conventional therapy requires careful monitoring for side effects.
- FGF23 measurements aid in diagnosing hypophosphatemia syndromes.
- Emerging therapies include cinacalcet and FGF23-targeted biologics.
Conclusions:
- Novel therapeutic strategies for XLH are evolving.
- Long-term efficacy and safety of new treatments need evaluation.
- Comparative studies are essential to guide optimal patient management.