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X-linked hypophosphatemic rickets: an Italian experts' opinion survey
F Emma1, M Cappa2, F Antoniazzi3
1Division of Nephrology, Department of Pediatric Subspecialties, Children's Hospital Bambino Gesù, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy. francesco.emma@opbg.net.
Italian Journal of Pediatrics
|June 2, 2019
Summary
X-linked hypophosphatemia (XLH) is a rare genetic disorder causing rickets and osteomalacia. This survey highlights its significant impact and varied management across Italian centers, emphasizing the need for better understanding and treatment strategies.
Area of Science:
- Genetics and rare diseases
- Endocrinology and metabolic disorders
- Pediatric bone diseases
Background:
- X-linked hypophosphatemia (XLH) is the primary genetic cause of hypophosphatemia, stemming from PHEX gene mutations and leading to elevated FGF23 levels.
- XLH manifests as rickets in children and osteomalacia in adults, presenting severe, debilitating complications and often experiencing diagnostic delays due to its rarity.
- Current treatments, including phosphate salts and activated vitamin D, are often insufficient for a complete cure.
Purpose of the Study:
- To assess the current epidemiological data, diagnostic approaches, and treatment protocols for XLH in Italy.
- To gather expert opinions on XLH management due to the condition's low prevalence.
Main Methods:
- An expert-led survey utilizing a questionnaire to collect comprehensive data on XLH.
- Data gathered from 10 Italian centers (predominantly pediatric) on 175 patients diagnosed between 1998 and 2017.
Main Results:
- Diagnosis occurred before age 5 in 61% of patients, with 95% exhibiting bone deformities, often moderate/severe (75%), and 67% experiencing growth stunting.
- Common complications included bone pain (40%), dental issues (abscesses 33%, malpositions 53%), nephrocalcinosis (34%), and tertiary hyperparathyroidism (6%).
- Significant variability was observed in treatment protocols across different centers.
Conclusions:
- X-linked hypophosphatemia (XLH) is a severe condition associated with substantial patient morbidity.
- The findings underscore the challenges in XLH diagnosis and management, highlighting the need for standardized and effective therapeutic strategies.
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