Alagille综合征患儿1例临床和遗传学分析:一个包含JAG1基因的染色体新中间缺失的识别
发布时间：2018-11-02 16:23
【摘要】：Alagille综合征(ALGS)是一种常染色体显性遗传病,可累及肝脏、心脏、骨骼、眼睛、肾脏、颜面等多个系统。本文报道1例ALGS患儿的临床和遗传学特征。患儿为3个月10d男婴,因发现皮肤、巩膜黄染3个月就诊。体格检查示:宽额头,小下颌;胸骨左缘第2、3肋间可闻及3~4/6级收缩期杂音;腹部膨隆,肝右肋下3cm可触及,质地中等。生化结果示肝功能明显异常,胆红素升高,且以结合胆红素升高为主,伴总胆汁酸和γ-谷氨酰转肽酶显著升高。心脏彩超示房间隔缺损、肺动脉狭窄。二代测序发现该患儿JAG1基因整体杂合缺失,而染色体微阵列分析在患儿20号染色体p12.3p12.2处检出约3.0Mb缺失,该范围包含ALGS致病基因JAG1。该患儿具备特殊面容、心脏畸形和胆汁淤积等临床表现,结合遗传学分析结果,诊断ALGS明确。确诊后给予对症支持治疗,现已随访至生后11个月,胆红素较治疗前明显下降,但总胆汁酸和γ-谷氨酰转肽酶等指标仍明显升高,其远期预后仍有待随访观察。本研究扩展了JAG1基因突变谱,同时为患儿诊断、治疗及家系遗传咨询和产前诊断提供了实验室依据。
[Abstract]:Alagille syndrome (ALGS) is an autosomal dominant disease that involves multiple systems such as liver, heart, bone, eyes, kidney, face and so on. This paper reports the clinical and genetic characteristics of a case with ALGS. The child was a 10-day boy for 3 months. The skin was found and the sclera yellow stain was seen for 3 months. Physical examination showed: wide forehead, small mandible, 3 intercostal murmur of left sternum and 3 ~ 4 / 6 degree constrictive murmur; abdominal bulge, 3cm under right costal of liver palpable, medium texture. The biochemical results showed that liver function was obviously abnormal, bilirubin was increased, and conjugated bilirubin was mainly increased, accompanied by a significant increase in total bile acid and 纬 -glutamyl transpeptidase. Echocardiography showed atrial septal defect and pulmonary artery stenosis. The second generation sequencing found that the whole heterozygosity deletion of JAG1 gene was found in this child, while the deletion of 3.0Mb was detected by chromosome microarray analysis at chromosome 20 p12.3p12.2, which included the ALGS pathogenicity gene JAG1.. The patient had special facial features, cardiac malformation and cholestasis. Combined with genetic analysis, the diagnosis of ALGS was clear. After receiving symptomatic support therapy after diagnosis, bilirubin was significantly lower than that before treatment until 11 months after birth, but total bile acid and 纬 -glutamyl transpeptidase were still significantly increased, and the long-term prognosis was still to be observed. This study extends the JAG1 gene mutation spectrum and provides laboratory evidence for the diagnosis, treatment, family genetic counseling and prenatal diagnosis of children.
【作者单位】： 暨南大学附属第一医院儿科;
【基金】：国家自然科学基金(81570793)
【分类号】：R725.9
本文编号：2306324
[Abstract]:Alagille syndrome (ALGS) is an autosomal dominant disease that involves multiple systems such as liver, heart, bone, eyes, kidney, face and so on. This paper reports the clinical and genetic characteristics of a case with ALGS. The child was a 10-day boy for 3 months. The skin was found and the sclera yellow stain was seen for 3 months. Physical examination showed: wide forehead, small mandible, 3 intercostal murmur of left sternum and 3 ~ 4 / 6 degree constrictive murmur; abdominal bulge, 3cm under right costal of liver palpable, medium texture. The biochemical results showed that liver function was obviously abnormal, bilirubin was increased, and conjugated bilirubin was mainly increased, accompanied by a significant increase in total bile acid and 纬 -glutamyl transpeptidase. Echocardiography showed atrial septal defect and pulmonary artery stenosis. The second generation sequencing found that the whole heterozygosity deletion of JAG1 gene was found in this child, while the deletion of 3.0Mb was detected by chromosome microarray analysis at chromosome 20 p12.3p12.2, which included the ALGS pathogenicity gene JAG1.. The patient had special facial features, cardiac malformation and cholestasis. Combined with genetic analysis, the diagnosis of ALGS was clear. After receiving symptomatic support therapy after diagnosis, bilirubin was significantly lower than that before treatment until 11 months after birth, but total bile acid and 纬 -glutamyl transpeptidase were still significantly increased, and the long-term prognosis was still to be observed. This study extends the JAG1 gene mutation spectrum and provides laboratory evidence for the diagnosis, treatment, family genetic counseling and prenatal diagnosis of children.
【作者单位】： 暨南大学附属第一医院儿科;
【基金】：国家自然科学基金(81570793)
【分类号】：R725.9
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