低磷性骨软化症：影像学的作用

Hypophosphatasia: the contribution of imaging.

作者信息

Linglart A, Salles J-P

机构信息

AP-HP, Centre de référence pour les maladies rares du calcium et du phosphate, Plateforme d'Expertise Maladies Rares Paris-Sud, filière OSCAR, INSERM U1169 and service d'endocrinologie pédiatrique, hôpital Bicêtre Paris-Sud, Le Kremlin-Bicêtre, France.

Centre de référence pour les maladies rares du métabolisme du calcium et du phosphore, filière OSCAR; unité d'endocrinologie, maladies osseuses, génétique et gynécologie, hôpital des enfants, CHU de Toulouse, TSA 70034, 31059 Toulouse Cedex 09, France; Centre de physiopathologie de Toulouse-Purpan, CPTP, INSERM UMR 1043, université de Toulouse-Paul-Sabatier, 31059 Toulouse, France.

出版信息

Arch Pediatr. 2017 May;24(5S2):5S74-5S79. doi: 10.1016/S0929-693X(18)30019-8.

DOI:10.1016/S0929-693X(18)30019-8

PMID:29405937

Abstract

Radiography and imaging are necessary for the diagnosis of hypophosphatasia (HPP) at all stages of life, from the antenatal period to the complications of adulthood, and in the forms of variable severity. The consequences of alkaline phosphatase activity deficiency, namely defective mineralization and bone fragility, may be detected by radiological tools and share features that distinguish them from other diseases responsible for mineralization defects. Radiography and imaging are also fundamental for the screening and diagnosis of the complications of HPP, some of which are related to the episodes of hypercalcemia and hyperphosphatemia (nephrocalcinosis). Radiologists should be aware of the particularities of HPP to efficiently orient the patients toward optimal medical care.

摘要

从产前阶段到成年期并发症，无论处于何种严重程度，X线摄影和影像学检查对于诊断各生命阶段的低磷酸酯酶症（HPP）都是必要的。碱性磷酸酶活性缺乏的后果，即矿化缺陷和骨骼脆弱，可通过放射学工具检测到，并且具有将其与其他导致矿化缺陷的疾病区分开来的特征。X线摄影和影像学检查对于HPP并发症的筛查和诊断也至关重要，其中一些并发症与高钙血症和高磷血症发作（肾钙质沉着症）有关。放射科医生应了解HPP的特殊性，以便有效地为患者指引最佳医疗护理方向。