本文選題：低磷酸酯酶癥　切入點(diǎn)：ALPL基因　出處：《中國當(dāng)代兒科雜志》2017年05期 　論文類型：期刊論文

【摘要】：該文對1例嬰兒型低磷酸酯酶癥(HPP)患兒及其家系進(jìn)行臨床特點(diǎn)分析及堿性磷酸酯酶基因(ALPL)檢測。先證者,男,5個月,多發(fā)骨骼畸形:胸骨凹陷、雙側(cè)橈骨彎曲畸形、雙膝外翻畸形,伴喂養(yǎng)困難、體重下降、發(fā)育遲滯、反復(fù)肺炎并呼衰,血堿性磷酸酶顯著降低�；純焊改�、姐姐、叔父、姨母(其他家系成員未能配合)中除父母及姨母的堿性磷酸酶略低,姨母可見脊柱側(cè)彎畸形,余均無臨床表型及實(shí)驗(yàn)室異常�；颊逜LPL基因檢測到來源于母親的c.228delG突變及來源于父親的c.407GA復(fù)合雜合突變,其姨母攜帶c.228delG突變。c.407GA突變?yōu)橐褕?bào)道的HPP致病突變,c.228delG為新的致病性突變。低磷酸酯酶癥是由ALPL基因突變所致,ALPL基因檢測是有效的診斷方法。該研究拓展了ALPL基因突變譜,為HPP的基因診斷提供了理論依據(jù)。
[Abstract]:A case of infantile hypophosphatase syndrome (HPP) and its pedigree were analyzed and ALPLs were detected. The proband, male, 5 months old, had multiple bone deformities: sternum depression, bilateral radial curvature. Double knee valgus deformity, accompanied by feeding difficulties, weight loss, stunting development, recurrent pneumonia and respiratory failure, blood alkaline phosphatase decreased significantly. Apart from parents and aunts whose alkaline phosphatase levels were slightly lower, aunt (other family members failed to cooperate) showed scoliosis deformity. There were no clinical phenotypic or laboratory abnormalities in all patients. The mutation of c. 228delG from mother and compound heterozygosity of c. 407GA from father were detected in ALPL gene of patients. Its aunt carried c. 228delG mutation. C.407GA mutation into reported HPP pathogenicity mutation c. 228delG is a new pathogenicity mutation. Low phosphatase disease is an effective diagnostic method for ALPL gene mutation. This study has expanded the ALPL gene mutation spectrum. It provides a theoretical basis for the gene diagnosis of HPP.
【作者單位】： 廣西醫(yī)科大學(xué)第一附屬醫(yī)院兒科;
【基金】：廣西醫(yī)科大學(xué)第一附屬醫(yī)院科研啟動基金資助項(xiàng)目(No.2010001)
【分類號】：R726.8
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本文編號：1616284