低磷酸酯酶症的酶替代疗法

Enzyme Replacement Therapy in Hypophosphatasia.

作者信息

Uçaktürk S. Ahmet, Elmaogullari Selin, Ünal Sevim, Gönülal Deniz, Mengen Eda

机构信息

Department of Pediatric Endocrinology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.

Department of Neonatology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.

出版信息

J Coll Physicians Surg Pak. 2018 Sep;28(9):S198-S200. doi: 10.29271/jcpsp.2018.09.S198.

DOI:10.29271/jcpsp.2018.09.S198

PMID:30173697

Abstract

Hypophosphatasia (HPP) is associated with significant morbidity and mortality in pediatric patients. The disease also imposes a high disease-burden in adult-onset HPP. Asfotase alfa (AA) is the first-in-class, bone-targeted, enzyme- replacement therapy designated to reverse the skeletal mineralisation defects in HPP. A male newborn presented with extreme fontanel gap and respiratory distress. He was diagnosed with perinatal lethal HPP thus AA treatment was started. Serum alkaline phosphatase (ALP) levels increased as high as 12,700 U/L during treatment. Any side effect related to AA was not observed. AA may be a valuable emerging therapy for the treatment of HPP.

摘要

低磷性佝偻病（HPP）在儿科患者中与显著的发病率和死亡率相关。该疾病在成人型HPP中也带来了很高的疾病负担。阿法骨化醇（AA）是首个靶向骨骼的酶替代疗法，旨在逆转HPP中的骨骼矿化缺陷。一名男性新生儿出现极度囟门间隙和呼吸窘迫。他被诊断为围产期致死性HPP，因此开始了AA治疗。治疗期间血清碱性磷酸酶（ALP）水平升高至12,700 U/L。未观察到与AA相关的任何副作用。AA可能是治疗HPP的一种有价值的新兴疗法。