关节挛缩、肾功能不全和胆汁淤积综合征一家系临床特点及VPS33B基因突变分析

发布时间：2018-05-15 09:25

  本文选题：关节挛缩、肾功能不全和胆汁淤积综合征 + VPSB基因　； 参考：《中国当代儿科杂志》2017年10期

【摘要】：关节挛缩、肾功能不全和胆汁淤积综合征(ARC综合征)是VPS33B或VIPAS39基因突变导致的一种常染色体隐性遗传病。本文探讨1例ARC综合征患儿的临床特征及VPS33B基因突变特点。患儿,女,47 d,皮肤巩膜黄染45 d、肝功能异常39 d。曾在多家医院诊治,诊断不明,疗效欠佳。体查发现皮肤巩膜黄染,全身皮肤干燥,四肢及躯干部片状脱屑,心肺未见异常,肝右肋下2.0 cm可触及,髋关节和膝关节屈曲、伸展受限,四肢肌张力低。血清转氨酶、胆汁酸、胆红素(以结合胆红素为主)等均升高,γ-谷氨酰转肽酶大致正常;尿常规发现尿糖及尿红细胞、白细胞均升高。遗传学分析证实患儿为VPS33B基因c.1594CT(p.R532X)突变的纯合子,确诊为ARC综合征。予以对症支持治疗,病情无好转,3个月29天时死亡。
[Abstract]:Joint contracture, renal insufficiency and cholestasis syndrome are autosomal recessive diseases caused by mutation of VPS33B or VIPAS39 gene. To investigate the clinical features and VPS33B gene mutation in one child with ARC syndrome. Children, female, 47 days, skin sclera yellow staining 45 days, liver function abnormality 39 days. Has been treated in many hospitals, the diagnosis is unknown, the curative effect is poor. Body examination showed that the skin was yellow stained with sclera, dry skin, flaky detritus of limbs and trunks, no abnormal heart and lung, 2.0 cm palpable under the right hepatic rib, flexion of hip and knee joint, limited extension and low muscular tension of extremities. The levels of serum aminotransferase, bile acid, bilirubin (mainly conjugated bilirubin) were increased and 纬 -glutamyl transpeptidase was normal. Genetic analysis confirmed the homozygote of VPS33B gene c. 1594CTA p. R532X, which was diagnosed as ARC syndrome. Symptomatic support treatment, no improvement, 3 months 29 days of death.
【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(81270957;81570793)
【分类号】：R725.9
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本文编号：1891883