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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。
In this paper, a case of infantile hypophosphatasia (HPP) in children and their families clinical features and alkaline phosphatase gene (ALPL) detection. Proband, male, 5 months, multiple skeletal deformities: sternum depression, bilateral radius flexion deformity, knees deformity, with feeding difficulties, weight loss, developmental delay, repeated pneumonia and respiratory failure, blood alkaline phosphatase Significantly lower. Children with parents, sisters, uncle, aunt (other family members failed to cooperate) in addition to parents and aunt’s slightly lower alkaline phosphatase, aunt showed scoliosis deformity, the remaining no clinical phenotype and laboratory abnormalities. Patients with ALPL gene detected from the mother’s c.228delG mutation and derived from the father’s c.407G> A compound heterozygous mutation, his aunt carrying c.228delG mutation. c.407G> A mutated to a reported HPP pathogenic mutation, c.228delG a new pathogenic mutation. Hypophosphatasia is caused by mutations in the ALPL gene, and the ALPL gene test is an effective diagnostic method. This study extends the ALPL gene mutation spectrum and provides a theoretical basis for gene diagnosis of HPP.