Abstract
X-linked hypophosphatemic rickets (XLHR) is a genetic disease caused by inactivating
pathogenic variants in PHEX, which results in reduced mineralization of bone, teeth, and renal phosphate wasting.
XLHR is traditionally treated by phosphate and vitamin D analogs. Recently, burosumab,
a recombinant anti-fibroblast growth factor-23 (FGF-23) monoclonal antibody was approved
as specific XLHR therapy. We aimed to assess the awareness, knowledge, and management
of XLHR among members of the Arab Society for Pediatric Endocrinology and Diabetes
(ASPED). Of the 97 physicians who answered the online questionnaire, 97% were aware
of XLHR, and while 90% screen family members of the index case, only 29% manage children
with XLHR. In children with rickets, 40% of participants measure serum/urine phosphate
routinely, and 31% request serum FGF-23 in suspected XLHR cases. Almost all responders
use conventional XLHR therapy, and 4% used Burosomab. Only 14% were satisfied with
the conventional treatment, and 69% reported therapeutic complications in up to 25%
of their patients. Multidisciplinary care for XLHR is practiced by 94%, but 82% of
providers did not have transition clinics. Pediatric endocrinologists in ASPED countries
are aware of XLHR but have variable practice and are unsatisfied with its conventional
treatment. Raising awareness of the recognition and modern management of XLHR is needed.
Keywords
X-linked hypophosphatemic rickets - burosomab - ASPED - FGF-23
