遗传性出血性毛细血管扩张症二例并文献复习

Case report of hereditary hemorrhagic telangiectasia in children and literature review

目的探讨2例遗传性出血性毛细血管扩张症(HHT)患儿的临床特点,以指导对本病的认识。方法对首都医科大学附属北京儿童医院呼吸二科2017年2月至2018年6月收治的2例HHT患儿的临床资料进行回顾性分析。以"遗传性毛细血管扩张症""hereditary hemorrhagic telangiectasia"为检索词分别在万方中文数据库及PubMed数据库中搜索建库至2019年12月进行相关文献复习。结果例1男,11岁,因"发热、咳嗽6 d"入院。既往曾被诊断3次左侧肺炎,近1年3次轻微鼻衄。胸背部软组织超声提示血管瘤并血管畸形。肺部增强CT和血管重建提示左舌叶肺动静脉畸形;肝内多发小动静脉瘘。行肺动静脉瘘栓塞介入治疗,病情好转。例2女,12岁11月龄,因"面色苍白3年"入院。外院诊断为缺铁性贫血。曾因"结肠多发息肉"行消化内镜钳除术。高分辨肺部CT示双肺多发分布磨玻璃结节影。消化系统超声提示小肠息肉继发慢性松散小肠套叠。入院后行小肠套叠复位术,并结扎息肉蒂部切除息肉。出院后全外显子基因检测提示SMAD4杂合变异。HHT国内报道数十例,国外大量文献报道,经基因诊断的HHT患儿主要为1和2型。结论儿童HHT可表现为出血、贫血及反复肠道息肉,常伴有内脏动静脉畸形如肺动静脉畸形甚至肺动静脉瘘,增强肺CT加血管重建可协助诊断肺动静脉畸形,基因诊断可以协助诊断HHT。

Objective To analyze the clinical features of 2 children with hereditary hemorrhagic telangiectasia(HHT)and review relevant literature.Methods The clinical data of 2 children with HHT who were admitted to Beijing Children′s Hospital,Capital Medical University from February 2017 to June 2018 were retrospectively analyzed.Meanwhile,the relevant papers published before December 2019 in Wanfang and Pubmed database were searched with the key words of"hereditary hemorrhagic telangiectasia"in Chinese and English,and reviewed.Results The first case was an 11-year-old boy,presented with fever and cough for 6 days.His past history revealed 3 times of left pneumonia and mild epistaxis.Ultrasound of the chest soft tissue found hemangioma and vascular malformation.Enhanced CT with vascular reconstruction suggested pulmonary arteriovenous malformation and multiple arteriovenous fistulas in the liver.After being treated with interventional pulmonary arteriovenous fistula embolization,his condition improved.The second case was a 12-year-old girl,presented with iron deficiency anemia during the past 3 years.Endoscopic resection of polyps had been performed before due to multiple polyps in the colon.High-resolution lung CT revealed multiple ground-glass nodules in bilateral lungs.Ultrasound of the digestive tract suggested small intestine polyps and secondary chronic loose intussusception.After admission,small bowel intussusception reduction was performed,and the polyps were ligated.Her whole exon gene testing suggested SMAD4 heterozygous variation.In the large number of reported cases,HHT1 and HHT2 are the main type.Conclusions Children with HHT may present with anemia and repeated intestinal polyps.It is worth noting that visceral arteriovenous malformations,such as pulmonary arteriovenous malformations,which is easily misdiagnosed as recurrent pneumonia,can also occur in children with HHT.Enhanced CT with vascular reconstruction can help find pulmonary arteriovenous malformation,and timely genetic test can confirm the diagnosis.