Orthopedic and neurosurgical care of X-linked hypophosphatemia

被引：5

作者：

Di Rocco, Federico ^{[1
,2
]}

Rothenbuhler, Anya ^{[3
,4
,5
]}

Adamsbaum, Catherine ^{[4
,6
,7
]}

Bacchetta, Justine ^{[8
]}

Pejin, Zagorka ^{[9
,10
]}

Finidori, Georges ^{[9
,10
]}

Pannier, Stephanie ^{[9
,11
]}

Linglart, Agnes ^{[3
,4
,5
,12
,13
]}

Wicart, Philippe ^{[3
,4
,9
]}

机构：

[1] Univ Lyon, Hosp Civils Lyon, French Referral Ctr Craniosynostosis, Dept Pediat Neurosurg,Hop Femme Mere Enfant, F-69677 Lyon, France

[2] LYOS, Bone Disorders Prevent, INSERM 1033, F-69008 Lyon, France

[3] Bicetre Paris Sud Hosp, AP HP, Endocrinol & Diabetol Children, Le Kremlin Bicetre, France

[4] Reference Ctr Rare Disorders Calcium & Phosphate, Filiere OSCAR, AP HP, Paris, France

[5] Bicetre Paris Sud Hosp, AP HP, Platform Expertise Rare Disorders Paris Sud, Le Kremlin Bicetre, France

[6] Paris Saclay Univ, Dept Pediat Radiol, Bicetre Paris Saclay Hosp, AP HP, Le Kremlin Bicetre, France

[7] Bicetre Paris Sud Hosp, AP HP, Dept Pediat Radiol, Le Kremlin Bicetre, France

[8] Femme Mere Enfant Hosp, Reference Ctr Rare Renal Disorders & Reference Ct, Dept Pediat Nephrol, Rheumatol & Dermatol, F-69677 Bron, France

[9] Hop Necker Enfants Malad, AP HP, Dept Pediat Orthoped Surg, Paris, France

[10] Paris 13 Univ, ENSAM, Inst Human Biomech Georges Charpak, Paris, France

[11] Univ Paris, F-75006 Paris, France

[12] Bicetre Paris Sud Hosp, INSERM U1185, Le Kremlin Bicetre, France

[13] Paris Saclay Univ, Paris, France

来源：

ARCHIVES DE PEDIATRIE | 2021年 / 28卷 / 07期

关键词：

Hypophosphatemia; Rickets; Craniosynostosis; Chiari syndrome; Syringomyelia; Genu valgum; Genu varum; Osteotomy; PREMATURE CRANIAL SYNOSTOSIS; CHIARI-I MALFORMATION; DEFORMITY CORRECTION; VITAMIN-D; SAGITTAL SYNOSTOSIS; EXTERNAL FIXATION; RICKETS; CHILDREN; CRANIOSYNOSTOSIS; MANAGEMENT;

D O I：

10.1016/j.arcped.2021.09.003

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity. Phosphate supplements and oral vitamin D analogs partially or, in some cases, fully restore the limb straightness. XLH patients may also be affected by premature, complete, or partial ossification of sutures between cranial bone, which could eventually result in cranial dysmorphia, decreased intracranial volume, and secondary abnormally high intracranial pressure with a cerebral compression. Our goal is to address the criteria and the management of the skeletal complications associated with XLH, mainly orthopedic and neurosurgical care, and reflect on decision-making and follow-up complexities. (C) 2021 Published by Elsevier Masson SAS on behalf of French Society of Pediatrics.

引用

页码：599 / 605

页数：7

共 40 条

[1] Windswept lower limb deformities in patients with hypophosphataemic rickets [J].