儿童和青少年低磷性佝偻病：临床特征与治疗

Hypophosphatasia in children and adolescents: clinical features and treatment.

作者信息

Rothenbuhler A, Linglart A

机构信息

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

出版信息

Arch Pediatr. 2017 May;24(5S2):5S66-5S70. doi: 10.1016/S0929-693X(18)30017-4.

DOI:10.1016/S0929-693X(18)30017-4

PMID:29405935

Abstract

Hypophosphatasia (HPP) is a rare genetic disease due to loss of function mutations in the gene that encodes for Alkaline Phosphatase-Liver (ALPL) that encodes for tissue non-specific alkaline phosphatase (TNSALP) or ALP. Juvenile HPP is, by definition, diagnosed between 6 months of age and adulthood. The clinical signs and symptoms of juvenile HPP are very heterogeneous in their presentation, severity and course. The bone (impaired bone mineralization, leg deformations, pain, rickets, growth abnormalities) and dental (premature loss of deciduous teeth) abnormalities are the best known. However, in juveniles, muscular and joint abnormalities are frequently predominant. Treatment options currently remain limited to the symptomatic treatment of pain and impaired function. Promising results of the enzyme replacement therapy have been demonstrated in severely affected children with HPP. Efficacy and long term benefits in patients affected with the juvenile form are still to be proven.

摘要

低磷酸酯酶症（HPP）是一种罕见的遗传性疾病，由编码组织非特异性碱性磷酸酶（TNSALP）或碱性磷酸酶-肝脏（ALPL）的基因功能丧失突变引起。根据定义，青少年HPP在6个月至成年期之间被诊断出来。青少年HPP的临床体征和症状在表现、严重程度和病程方面非常异质性。骨骼（骨矿化受损、腿部畸形、疼痛、佝偻病、生长异常）和牙齿（乳牙过早脱落）异常最为人所知。然而，在青少年中，肌肉和关节异常通常占主导地位。目前的治疗选择仍然仅限于对疼痛和功能受损的对症治疗。酶替代疗法在重度受影响的HPP儿童中已显示出有希望的结果。在青少年型患者中的疗效和长期益处仍有待证实。