1st Medical Department, Hanusch Hospital, Heinrich Collin-Str. 30, 1140, Vienna, Austria.
St. Vincent Hospital - Academic Teaching Hospital of the Medical University of Vienna, Vienna, Austria.
Curr Rheumatol Rep. 2018 Sep 10;20(11):69. doi: 10.1007/s11926-018-0778-5.
Hypophosphatasia (HPP) is a rare genetic disorder caused by mutations of the ALPL gene. ALPL encodes the tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Consequently, bone mineralization is decreased leading to fractures, arthralgia, and extra-skeletal manifestations including tissue calcification, respiratory failure, and neurological complications. This review summarizes the most important clinical findings, diagnosis, and treatment options for HPP.
Asfotase alfa is a recombinant human alkaline phosphatase, used as treatment for the underlying cause of HPP. Asfotase alfa enhances the survival in life-threatening HPP and improves bone mineralization, muscle strength, and pulmonary function. However, discontinuation of asfotase alfa leads to reappearance of bone hypomineralization. Due to its varied manifestations, HPP often mimics rheumatological and other bone diseases, thereby delaying its diagnosis. Asfotase alfa, a recombinant alkaline phosphatase, is available for the long-term enzyme replacement therapy in patients with pediatric-onset HPP to treat the bone manifestations of the disease.
低磷酸酯酶症（HPP）是一种由 ALPL 基因突变引起的罕见遗传性疾病。ALPL 基因编码组织非特异性碱性磷酸酶（TNSALP）同工酶。因此，骨矿化减少导致骨折、关节痛和骨骼外表现，包括组织钙化、呼吸衰竭和神经并发症。本文总结了 HPP 的重要临床发现、诊断和治疗选择。
阿法特酶是一种重组人碱性磷酸酶，用于治疗 HPP 的根本原因。阿法特酶可提高危及生命的 HPP 的生存率，并改善骨矿化、肌肉力量和肺功能。然而，阿法特酶的停药会导致骨矿化不足再次出现。由于其表现多样，HPP 常模仿风湿性和其他骨骼疾病，从而导致诊断延迟。阿法特酶是一种重组碱性磷酸酶，可用于儿科发病的 HPP 患者的长期酶替代治疗，以治疗疾病的骨骼表现。
