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中文摘要：
该文对1例婴儿型低磷酸酯酶症（HPP）患儿及其家系进行临床特点分析及碱性磷酸酯酶基因（ALPL）检测。先证者,男,5个月,多发骨骼畸形：胸骨凹陷、双侧桡骨弯曲畸形、双膝外翻畸形,伴喂养困难、体重下降、发育迟滞、反复肺炎并呼衰,血碱性磷酸酶显著降低。患儿父母、姐姐、叔父、姨母（其他家系成员未能配合）中除父母及姨母的碱性磷酸酶略低,姨母可见脊柱侧弯畸形,余均无临床表型及实验室异常。患者ALPL基因检测到来源于母亲的c.228delG突变及来源于父亲的c.407G〉A复合杂合突变,其姨母携带c.228delG突变。c.407G〉A突变为已报道的HPP致病突变,c.228delG为新的致病性突变。低磷酸酯酶症是由ALPL基因突变所致,ALPL基因检测是有效的诊断方法。该研究拓展了ALPL基因突变谱,为HPP的基因诊断提供了理论依据。
英文摘要：
This article reported the clinical features of one child with infantile hypophosphatasia（HPP） and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia（koilosternia, bending deformity of both radii, and knock-knee deformity of both knees）, feeding difficulty, reduction in body weight, developmental delay, recurrent pneumonia and respiratory failure, and a significant reduction in blood alkaline phosphatase. Among his parents, sister, uncle, and aunt（other family members did not cooperate with us in the examination）, his parents and aunt had a slight reduction in alkaline phosphatase and his aunt had scoliosis; there were no other clinical phenotypes or abnormal laboratory testing results. His ALPL gene mutation came from c.228 delG mutation in his mother and c.407GA compound heterozygous mutation in his father. His aunt carried c.228 del G mutation. The c.407GA mutation had been reported as the pathogenic mutation of HPP, and c.228 del G mutation was a novel pathogenic mutation. Hypophosphatasia is caused by ALPL gene mutation, and ALPL gene detection is an effective diagnostic method. This study expands the mutation spectrum of ALPL gene and provides a theoretical basis for geneti cdiagnosis of this disease.
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