Inherited fibroblast growth factor 23 excess.
Best Pract Res Clin Endocrinol Metab
; 38(2): 101844, 2024 Mar.
Article
in En
| MEDLINE
| ID: mdl-38044258
ABSTRACT
Syndromes of inherited fibroblast growth factor 23 (FGF-23) excess encompass a wide spectrum that includes X-linked hypophosphataemia (XLH), autosomal dominant and recessive forms of rickets as well as various syndromic conditions namely fibrous dysplasia/McCune Albright syndrome, osteoglophonic dysplasia, Jansen's chondrodysplasia and cutaneous skeletal hypophosphataemia syndrome. A careful attention to patient symptomatology, family history and clinical features, supported by appropriate laboratory tests will help in making a diagnosis. A genetic screen may be done to confirm the diagnosis. While phosphate supplements and calcitriol continue to be the cornerstone of treatment, in recent times burosumab, the monoclonal antibody against FGF-23 has been approved for the treatment of children and adults with XLH. While health-related outcomes may be improved by ensuring adherence and compliance to prescribed treatment with a smooth transition to adult care, bony deformities may persist in some, and this would warrant surgical correction.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hypophosphatemia
/
Familial Hypophosphatemic Rickets
Limits:
Adult
/
Child
/
Humans
Language:
En
Journal:
Best Pract Res Clin Endocrinol Metab
Journal subject:
ENDOCRINOLOGIA
/
METABOLISMO
Year:
2024
Document type:
Article
Affiliation country:
India