Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR)

Background X-linked hypophosphatemic rickets (XLHR) is due to mutations in PHEX leading to unregulated production of FGF23 and hypophosphatemia. XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral vitamin analogs, partially or, in some cases, fully restore the li...

Full description

Saved in:
Bibliographic Details
Published in:Endocrine Connections 2017-11, Vol.6 (8), p.566-573
Main Authors: Gizard, A, Rothenbuhler, A, Pejin, Z, Finidori, G, Glorion, C, de Billy, B, Linglart, A, Wicart, P
Format: Article
Language:English
Subjects:
genu valgum
genu varum
hemiepiphysiodesis
osteotomy
PHEX
X-linked hypophosphatemic rickets
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background X-linked hypophosphatemic rickets (XLHR) is due to mutations in PHEX leading to unregulated production of FGF23 and hypophosphatemia. XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral vitamin analogs, partially or, in some cases, fully restore the limb straightness. Surgery is the alternative for severe or residual limb deformities. Objective To retrospectively assess the results of surgical limb correction in XLHR (osteotomies and bone alignment except for 3 transient hemiepiphysiodesis). Methods We analyzed the incidence of recurrence and post-surgical complications in 49 XLHR patients (29F, 20M) (mean age at diagnosis 6.0 years (± 7.1)). Results At first surgery, the mean age was 13.4 years (± 5.0). Recurrence was observed in 14/49 (29%) patients. The number of additional operations significantly decreased with age (2.0 (± 0.9), 1.7 (± 1.0) and 1.2 (± 0.4) in children 15 years; P 
ISSN:2049-3614
2049-3614
DOI:10.1530/EC-17-0154