Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia.
Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia.
复制标题
产前诊断有助于对产前良性低磷酸酯酶症进行及时的酶替代治疗。
DOI：
10.1080/01443615.2019.1606177
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发表时间：
2020
期刊：
影响因子：
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通讯作者：
Fujiwara H.
中科院分区：
文献类型：
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作者：
Ishijima Y;Iizuka T;Kagami K;Masumoto S;Nakade K;Mitani Y;Niida Y;Watanabe A;Yamazaki R;Ono M;Fujiwara H.
低磷酸症（HPP）是一种罕见的疾病，由碱性磷酸酶，肝/骨/肾基因（ALPL）的功能突变丧失引起，该基因编码碱性磷酸酶的组织非特异性同工酶（Iqbal et al. 2000）。HPP根据发病和骨骼发育不良的严重程度分为六个亚型。HPP的六种临床类型是：(1)围产期致死性；(2)产前良性，出生时就很明显；(3)婴儿型，1 - 6个月；(4)儿童型，6 - 18岁；(5)齿型，以乳牙过早脱落5岁为特征，没有明显的骨骼症状；(6)成年型，通常在中年出现。围产期致死型通常是致命的，因为成骨能力严重下降（Taketani et al. 2014）。约50%的婴儿HPP早期死亡，而产前良性HPP预后良好。由于婴儿HPP和围产期致死性HPP预后不良，它们通常被称为“危及生命”的HPP。围产期致死性HPP和婴儿HPP由于呼吸问题预后较差，而围产期良性HPP是预后较好的亚型，不涉及呼吸问题，在某些情况下骨骼发育不全会自发改善（Whyte etal . 2016）。由asfotase alfa（一种重组骨靶向碱性磷酸酶，用于HPP）组成的酶替代疗法（ERT）于2015年上市（Millan and Plotkin 2012; Whyte et al. 2016）。我们在此提出一个产前HPP诊断产前ERT是在出生后立即开始的情况下。
Hypophosphatasia (HPP) is a rare disorder which is caused by loss of function mutations within the alkaline phosphatase, liver/bone/kidney gene (ALPL), which encodes the tissue nonspecific isoenzyme of alkaline phosphatase (Iqbal et al. 2000). HPP is classified into six subtypes based on the onset and severity of skeletal dysplasia. The six clinical types of HPP are the following:(1) perinatal lethal, and (2) prenatal benign, which are apparent at birth,(3) infantile, from 1 to 6months,(4) childhood type, from the age of 6months to 18years,(5) odonto type, which is characterised by the premature loss of deciduous teeth by 5years without apparent bone symptoms, and (6) adult, which is typically presents during middle age. The perinatal lethal type is usually lethal because of a profound reduction in osteogenesis (Taketani et al. 2014). About 50% of infantile HPP die early, whereas prenatal benign HPP has a good prognosis. Because infantile HPP and perinatal lethal HPP show poor prognosis, they are often referred as ‘life-threatening’HPP. Perinatal lethal and infantile HPP have poor prognosis due to respiratory issues, whereas perinatal benign HPP is the good prognostic subtype which does not involve respiratory issues and skeletal hypoplasia spontaneously improves in some cases (Whyte et al. 2016). Enzyme replacement therapy (ERT) consisting of asfotase alfa, a recombinant bone-targeted alkaline phosphatase for HPP became available in 2015 (Millan and Plotkin 2012; Whyte et al. 2016). We herein present a case of prenatal HPP diagnosed prenatally for which ERT was initiated immediately after birth.