十三届北京罕见病学术大会暨2025京津冀罕见病学术大会（220）

1.  厦门医学院附属第二医院放射二科

2.厦门医学院附属第二医院呼吸重症一科

王艳¹  左翠云²*李婷婷¹ 宫海燕² 成启华¹

【基金项目】厦门市医疗卫生指导性项目，编号3502Z20214ZD1204

单侧肺静脉闭锁（Unilateral pulmonary vein atresia， UPVA）是指总肺静脉与左心房之间的连接失败。UPVA是一种罕见的由胚胎发育缺陷引起的常见肺静脉畸形。孤立性UPVA并不常见，诊断通常发生在儿童早期，因为哮喘、复发性肺炎或咯血，但成人无症状的 UPVA诊断更不常见。在本报告中，我们描述了一例体检发现并随访三年的无症状UPVA合并右肺动脉发育不良。                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                     

1.  背景

单侧肺静脉闭锁（unilateral pulmonary vein atresia，UPVA）是一种罕见的肺

静脉发育异常性疾病，发病率＜1.7/100 000，多为先天性，仅少数为后天获得性，

可继发于肺静脉异位引流、肺静脉闭锁或狭窄矫正术后，或继发于心脏肿瘤等[1]。

先天性 UPVA 多见于婴幼儿，成年人较少见，约50%的患者有其他心脏畸形或异位肺静脉引流的并发症[2]。据文献报道未治疗患者 3 年存活率为49%[3]。

孤立性UPVA并不常见，诊断通常发生在儿童早期，因为哮喘、复发性肺炎或咯血，但成人无症状的 UPVA诊断更不常见。

2.临床病例

患者，女，42岁，因三年前体检发现右肺间质性肺疾病就诊我院并收入院。完善病史采集及相关实验室检查未发现职业相关、结蹄组织相关、结节病等间质性肺疾病，无手术史。患者3年余前体检时行胸部CT检查见:右肺间质性病变，无咳嗽、咳痰、胸闷、活动后气喘，无反酸、烧心、呃逆，无肌肉酸痛、肢体乏力、发热，无晨僵、雷诺氏征、“v”字领、“披肩征”。饮食、睡眠可，大小便正常。体重未见明显变化。肺功能检查：肺通气功能正常；肺弥散功能、残总比正常。体检:体温36.2℃，脉搏96次/min，血压110/74 mmHg(1 mm Hg=0.133 kPa)。左肺呼吸音粗，右肺呼吸音低，深吸气时可闻及少量湿啰音。心脏未闻及杂音，心律齐。实验室检查未见明显异常。

2025年1月随访复查完善胸部增强CT检查提示：左心房右侧缘光滑、圆钝，右肺上中下静脉缺如（图1A-B）；右肺动脉干略纤细约10.7mm并右肺内动脉稀疏（图1C、E），左肺动脉干内径约13.8mm并肺内动脉未见明显异常（图1D、E），右肺支气管动脉增粗扭曲，内径约2.5mm（图1E-F橘色箭），左侧支气管动脉未见明显增粗。静脉期右肺门区及气管隆突下多发迂曲增粗静脉血管（图1D、E）。右侧胸廓略塌陷，右肺间质光滑性增粗扭曲（图1G-H）。诊断:右肺静脉闭锁(unilateral pulmonary vein atrial，UPVA)合并右肺动脉发育不良。

支气管镜下表现（图2）：声带活动好，气管通畅，隆突锐利。左肺各叶段支气管黏膜光滑，管腔通畅，远端管口可见。右肺各叶段支气管黏膜血管丰富，呈红斑样改变;上叶支气管黏膜呈瘢痕样改变，下叶基底干纵行皱襞增宽，内侧段支气管纵行皱襞隆起明显、管腔略狭窄。处置:依据胸部CT于右肺下叶后基底段行肺活检;中叶及基底干间嵴行粘膜活检，送病理；出血略多，予止血。

病理诊断: (右肺下叶后基底段)送检肺组织，肺泡间隔增宽，纤维组织增生，少量慢性炎细胞浸润，肺泡腔见少量组织细胞聚集，局灶肺间质纤维化。中叶及基底干间嵴)送检支气管黏膜组织，被覆假复层纤毛柱状上皮，间质见少量淋巴细胞浸润。

心脏超声：经胸超声心动图显示心脏未见明显异常。

最终诊断，右肺静脉闭锁伴右肺动脉发育不良。由于患者无明显临床症状，采取了密切随访。

3.  讨论

单侧孤立性肺静脉闭锁是一种极其罕见的先天性异常。它可能发生在右侧或左侧肺叶，通常在婴儿期被诊断[10][4]。有研究表明UPVA系胚胎发育3个月时，在与原始肺静脉相连接的体静脉退化消失之后出现肺静脉或共同腔闭锁，继而出现单侧肺静脉血既不能引流入体静脉系统，也不能回归左心房的先天性畸形[1][5]。

UPVA的症状和体征缺乏特异性[6]。儿童和婴儿的UPVA主要表现为复发性肺炎和咯血[10][4]，UPVA可导致肺动脉高压、心脏衰竭及死亡[7]，总体三年存活率49%[8]。在我们的病例中，患者没有明显临床症状，无肺动脉高压，没有先天性心脏病或其他类似于UPVA典型症状的既往病史。支气管镜检查发现右侧支气管树粘膜充血，与支气管镜接触时出血（图2），这可能与毛细血管压力高有关，由于UPVA造成的压力和回流受阻。UPVA的病理学表现为纵隔多发侧支静脉的代偿性开放，导致外周血管压力增加，形成了过多的组织液并挤入淋巴管，导致淋巴管扩张、间质水肿和细胞浸润。随着成纤维细胞的浸润，肺间质逐渐转化为纤维组织，破坏了原始结构及其弹性[9]。纵隔软组织肿块是UPVA患者的代偿血管系统[10][4]。在我们的病例中，静脉期纵隔及右肺门区软组织明显均匀增强，增强程度与静脉相似（图1）；支气管内镜检查显示右肺支气管黏膜血管丰富。尽管UPVA可以合并一系列并发症，例如肺动脉高压、反复胸腔积液，但也存在少数情况代偿平衡无明显临床症状。UPVA的确诊需要CT血管造影或数字减影血管造影[10]。临床上，存在单侧肺间质性改变，肺血管异常和肺门肿块，需要排除UAVP。本例诊断明确后，鉴于患者少见的无明显临床症状，建议随访观察。

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