Takahashi Yuichiro, Sawai Hideaki, Murotsuki Jun, Satoh Shuhei, Yamada Takahiro, Hayakawa Hiromi, Kouduma Yutaka, Sase Masakatsu, Watanabe Atsushi, Miyazaki Osamau, Nishimura Gen
Department of Fetal-Maternal Medicine, Nagara Medical Center, Gifu, Japan.
Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Japan.
Prenat Diagn. 2017 May;37(5):491-496. doi: 10.1002/pd.5040. Epub 2017 Apr 17.
The objective of this study is to clarify the usefulness of parental alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP).
Maternal (m) and paternal (p) ALP values were measured in 77 cases from a multicenter cohort (fetal skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively.
Seventeen cases were eventually diagnosed as HPP and 60 as not HPP; the overall mean m-ALP and p-ALP (standard deviation) values were 133.4 (53) versus 197 (69) IU/L and 149.6 (71.8) versus 231 (61.4) IU/L (p < 0.001). Receiver operating characteristic curve analysis showed that the optimal m-ALP and p-ALP cutoff values were 123 and 165 IU/L, respectively. Presence of at least one of the m-ALP or p-ALP values abnormally low had a sensitivity, specificity, and positive predictive values of 82% (14/17), 93%, and 78%, respectively, for the diagnosis of HPP.
Parental ALP measurement might be an auxiliary tool to hone in the prenatal diagnosis of fetal HPP. © 2017 John Wiley & Sons, Ltd.
本研究旨在阐明父母碱性磷酸酶（ALP）在低磷酸酯酶症（HPP）产前诊断中的作用。
对来自日本胎儿骨骼发育异常论坛多中心队列的77例孕期超声检查显示四肢短小的病例，测定其母源（m）和父源（p）ALP值。出生后，通过X线、脐血ALP及基因分析以获得准确诊断。对ALP的筛查作用进行回顾性研究。
最终确诊17例为HPP，60例非HPP；总体平均m-ALP和p-ALP（标准差）值分别为133.4（53）与197（69）IU/L以及149.6（71.8）与231（61.4）IU/L（p<0.001）。受试者工作特征曲线分析显示，最佳m-ALP和p-ALP临界值分别为123和165 IU/L。m-ALP或p-ALP值至少有一个异常低时，对HPP诊断的敏感性、特异性和阳性预测值分别为82%（14/17）、93%和78%。
测定父母ALP可能是优化胎儿HPP产前诊断的辅助工具。© 2017约翰威立父子有限公司
