一例因组织非特异性碱性磷酸酶基因突变导致围产期低磷酸盐血症的患者

Q4 Medicine

中华内分泌代谢杂志 Pub Date : 2020-04-25 DOI:10.3760/CMA.J.CN311282-20190313-00088

Yingfang Yu, An Chen, Ji-yan Zheng, Lihua Chen, L. Du

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引用次数: 1

摘要

目的探讨一例围产期低磷酸盐血症（HPP）患儿及其父母的临床和遗传特征，以便更好地了解该病。方法认真收集HPP患者的临床资料。为这名婴儿患者采集了实验室和射线照相检查数据。用来自外周血的基因组DNA对先证者及其父母的所有12个组织非特异性碱性磷酸酶（ALPL）外显子和侧翼外显子-内含子连接进行测序。结果患者血碱性磷酸酶水平下降，血清钙水平升高。他的骨骼出现软骨发育不良样变化。在先证者中发现了复合杂合突变，外显子5中的c.346G>A（p.A116T）和外显子10中的c.1171C>T（p.R391C）。他的父亲和母亲没有临床表现，但分别携带c.346G>A（p.A116T和c.1171C>T（p.R391C）错义突变，表明该家族为常染色体隐性遗传。结论围产期HPP死亡率高。骨骼畸形、高钙血症和ALP水平低在围产期HPP的鉴别诊断中很重要。关键词：突变；低磷酸盐血症；碱性磷酸酶基因

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One patient with perinatal hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene

Objective To explore the clinical and genetic characteristics of a Chinese baby with perinatal hypophosphatasia (HPP) and his parents for better understanding of the disease. Methods The clinical data of the patient with HPP was carefully collected. The laboratory and radiographic examination data were taken for this baby patient. Sequencing for all the twelve tissue-nonspecific alkaline phosphatase(ALPL) exons and the flanking exon-intron junctions were performed in the proband and his parents with their genomic DNA from peripheral blood. Results The blood level of alkaline phosphatase was decreased in this patient while serum calcium level was increased. His bone revealed chondrodysplasia-like change. Compound heterozygous mutations were found in the proband, with c. 346G>A(p.A116T) in exon 5 and c. 1171C>T(p.R391C) in exon 10. His father and mother were without clinical manifestation while respectively carried c. 346G>A(p.A116T and c. 1171C>T(p.R391C) missense mutations, suggesting an autosomal recessive inheritance in this family. Conclusion Perinatal HPP has a high mortality rate. Skeletal deformities, hypercalcemia, and low level of ALP are important in the differential diagnosis of perinatal HPP. Key words: Mutation; Hypophosphatasia; Alkaline phosphatase gene

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来源期刊

中华内分泌代谢杂志 Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

0.60

自引率

0.00%

发文量

7243

期刊介绍： The Chinese Journal of Endocrinology and Metabolism was founded in July 1985. It is a senior academic journal in the field of endocrinology and metabolism sponsored by the Chinese Medical Association. The journal aims to be the "Chinese broadcaster of new knowledge on endocrinology and metabolism worldwide". It reports leading scientific research results and clinical diagnosis and treatment experience in endocrinology and metabolism and related fields, as well as basic theoretical research that has a guiding role in endocrinology and metabolism clinics and is closely integrated with clinics. The journal is a core journal of Chinese science and technology (a statistical source journal of Chinese science and technology papers), and is included in Chinese and foreign statistical source journal databases such as the Chinese Science and Technology Papers and Citation Database, Chemical Abstracts, and Scopus.