Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by compound heterozygous variants in ALPL. Her chief complaints were severe musculoskeletal pain, muscle weakness, and impaired daily activities necessitating assistance in housework and child-rearing in addition to a history of early tooth loss and mildly short stature. Asfotase alfa therapy produced a remarkable increase in muscle strength and daily activities and markedly reduced musculoskeletal pain. Drug efficacy was clearly demonstrated through multiple test batteries (muscle strength test using microFET®2, six-minute walking test, Stair Climb Test, rising-from-floor-time test, and number-of-steps test using Actigraph®) currently adopted as standardized evaluations in Duchenne muscular dystrophy clinical trials since no test batteries for HPP have been established to date. These tests may also be promising for the assessment of HPP.

低磷血症（HPP）是一种罕见疾病，由ALPL基因中的双等位基因功能缺失变异体或单等位基因显性负变异体引起。我们在此描述了由ALPL中的复合杂合变异体引起的32岁女性患有儿童期HPP的临床结果。她的主要主诉是严重的骨骼肌肉疼痛，肌肉无力以及日常活动受损，除了早起的牙齿脱落和轻度矮小的病史外，还需要协助做家务和抚养孩子。Asfotase alfa治疗可显着增加肌肉力量和日常活动，并显着减轻肌肉骨骼疼痛。当前采用的多个测试电池（使用microFET®2的肌肉强度测试，六分钟步行测试，爬楼梯测试，地板上升测试和使用Actigraph®的步数测试）清楚地证明了药物功效由于迄今为止尚未建立用于HPP的测试电池，因此作为Duchenne肌营养不良症临床试验中的标准化评估。这些测试对于HPP的评估也可能很有希望。